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| enzyme replacement therapy for pku: Progressive Brain Disorders in Childhood Juan M. Pascual, 2017-04-20 A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management. |
| enzyme replacement therapy for pku: The Metabolic & Molecular Bases of Inherited Disease Charles R. Scriver, 2001 Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism. |
| enzyme replacement therapy for pku: Therapeutic Enzymes: Function and Clinical Implications Nikolaos Labrou, 2019-09-03 Therapeutic enzymes exhibit fascinating features and opportunities, and represent a significant and promising subcategory of modern biopharmaceuticals for the treatment of several severe diseases. Research and drug developments efforts and the advancements in biotechnology over the past twenty years have greatly assisted the introduction of efficient and safe enzyme-based therapies for a range of both rare and common disorders. The introduction and regulatory approval of twenty different recombinant enzymes has enabled effective enzyme-replacement therapy. This volume aims to overview these therapeutic enzymes, focusing in particular on more recently approved enzymes produced by recombinant DNA technology. This volume is composed of four sections. Section 1 provides an overview of the production process and biochemical characterization of therapeutic enzymes, while Section 2 focuses upon the engineering strategies and delivery methods of therapeutic enzymes. Section 3 highlights the clinical applications of approved therapeutic enzymes, including aspects on their structure, indications and mechanisms of action. Together with information on these mechanisms, safety and immunogenicity issues and various adverse events of the recombinant enzymes used for therapy are discussed. Section 4, provides discussion on the prospective and future developments of new therapeutic enzymes. This book is aimed at academics, researchers and students undertaking advanced undergraduate/postgraduate programs in the biopharmaceutical/biotechnology area who wish to gain a comprehensive understanding of enzyme-based therapeutic molecules. |
| enzyme replacement therapy for pku: Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases N. Blau, M. Duran, M.E. Blaskovics, K.M. Gibson, 2012-12-06 This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible. |
| enzyme replacement therapy for pku: Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e Sam Goldstein, Cecil R. Reynolds, 2010-10-19 Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates. |
| enzyme replacement therapy for pku: Essentials of Medical Biochemistry Chung Eun Ha, N. V. Bhagavan, 2011-01-28 Expert biochemist N.V. Bhagavan's new work condenses his successful Medical Biochemistry texts along with numerous case studies, to act as an extensive review and reference guide for both students and experts alike. The research-driven content includes four-color illustrations throughout to develop an understanding of the events and processes that are occurring at both the molecular and macrolecular levels of physiologic regulation, clinical effects, and interactions. Using thorough introductions, end of chapter reviews, fact-filled tables, and related multiple-choice questions, Bhagavan provides the reader with the most condensed yet detailed biochemistry overview available. More than a quick survey, this comprehensive text includes USMLE sample exams from Bhagavan himself, a previous coauthor. - Clinical focus emphasizing relevant physiologic and pathophysiologic biochemical concepts - Interactive multiple-choice questions to prep for USMLE exams - Clinical case studies for understanding basic science, diagnosis, and treatment of human diseases - Instructional overview figures, flowcharts, and tables to enhance understanding |
| enzyme replacement therapy for pku: Latest Findings in Intellectual and Developmental Disabilities Research Uner Tan, 2012-02-15 Intellectual and Developmental Disabilities presents reports on a wide range of areas in the field of neurological and intellectual disability, including habitual human quadrupedal locomotion with associated cognitive disabilities, Fragile X syndrome, autism spectrum disorders, Down syndrome, and intellectual developmental disability among children in an African setting. Studies are presented from researchers around the world, looking at aspects as wide-ranging as the genetics behind the conditions to new and innovative therapeutic approaches. |
| enzyme replacement therapy for pku: PKU and BH4 Nenad Blau, 2006 |
| enzyme replacement therapy for pku: Inborn Metabolic Diseases K. Tada, N.R.M. Buist, John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2013-03-14 Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy. |
| enzyme replacement therapy for pku: Clinical Paediatric Dietetics Vanessa Shaw, 2020-06-24 Clinical Paediatric Dietetics, Fifth Edition continues to provide a very practical approach to dietary management of children with an extensive range of disorders. Thoroughly revised to reflect the most recent scientific and medical literature, this new edition proves to be an indispensable guide for both acute and community-based healthcare professionals. New and expanded content covering a range of disorders, treatments and guidelines has been introduced to the fifth edition, from diabetes technology and the ketogenic diet, to renal tubular disorders, refeeding syndrome, and blended diets in enteral nutrition. This authoritative volume: Supports contemporary evidence-based clinical practice Covers inherited metabolic disorders and diseases of all major organ systems Provides contributions from practising paediatric dietitians, academic research dietitians and a paediatric psychiatrist Includes worked examples, real-world case studies and easy-to-use tables Produced in collaboration with the British Dietetic Association (BDA) and the BDA Paediatric Specialist Group, Clinical Paediatric Dietetics is an invaluable resource for all healthcare practitioners caring for children. |
| enzyme replacement therapy for pku: Inborn Errors of Metabolism Brendan Lee, Fernando Scaglia, 2014-10-13 This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases. |
| enzyme replacement therapy for pku: Movement Disorders in Childhood Harvey S. Singer, Jonathan W. Mink, Donald L. Gilbert, Joseph Jankovic, 2015-10-27 Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. - Provides the only current reference specifically focused on childhood movement disorders - Investigates the underlying etiologies and mechanisms of these disorders - Completely revised and updated with new materials and a more disease-oriented approach - New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis - New videos of instructive and unusual childhood movement disorders - 2016 BMA Medical Book Awards Highly Commended in Neurology |
| enzyme replacement therapy for pku: Assessing Genetic Risks Institute of Medicine, Committee on Assessing Genetic Risks, 1994-01-01 Raising hopes for disease treatment and prevention, but also the specter of discrimination and designer genes, genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings. |
| enzyme replacement therapy for pku: Newborn Screening for Pompe Disease Wuh-Liang Hwu, Yin-Hsiu Chien, Raymond Wang, 2021-09-02 Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease. |
| enzyme replacement therapy for pku: Hormone Metabolism and Signaling in Plants Jiayang Li, Chuanyou Li, Steven M Smith, 2017-04-19 Plant Hormones: Biosynthesis and Mechanisms of Action is based on research funded by the Chinese government's National Natural Science Foundation of China (NSFC). This book brings a fresh understanding of hormone biology, particularly molecular mechanisms driving plant hormone actions. With growing understanding of hormone biology comes new outlooks on how mankind values and utilizes the built-in potential of plants for improvement of crops in an environmentally friendly and sustainable manner. This book is a comprehensive description of all major plant hormones: how they are synthesized and catabolized; how they are perceived by plant cells; how they trigger signal transduction; how they regulate gene expression; how they regulate plant growth, development and defense responses; and how we measure plant hormones. This is an exciting time for researchers interested in plant hormones. Plants rely on a diverse set of small molecule hormones to regulate every aspect of their biological processes including development, growth, and adaptation. Since the discovery of the first plant hormone auxin, hormones have always been the frontiers of plant biology. Although the physiological functions of most plant hormones have been studied for decades, the last 15 to 20 years have seen a dramatic progress in our understanding of the molecular mechanisms of hormone actions. The publication of the whole genome sequences of the model systems of Arabidopsis and rice, together with the advent of multidisciplinary approaches has opened the door to successful experimentation on plant hormone actions. - Offers a comprehensive description of all major plant hormones including the recently discovered strigolactones and several peptide hormones - Contains a chapter describing how plant hormones regulate stem cells - Offers a fresh understanding of hormone biology, particularly molecular mechanisms driving plant hormone actions - Discusses the built-in potential of plants for improvement of crops in an environmentally friendly and sustainable manner |
| enzyme replacement therapy for pku: Antimicrobial Peptides K. Ajesh, K. Sreejith, 2022-11-23 Antimicrobial Peptides: Challenges and Future Perspectives covers the latest developments about antimicrobial peptides in the scenario of drug resistance. The book is divided into 16 chapters arranged in sequence and preceded by chapters on historical developments and their role as regulatory molecules in innate defense mechanism. Emphasis is given to purification techniques and characterization suitable for interdisciplinary research. Chapters provide an inventory of various antimicrobial peptides, from a diverse array of organisms such as bacteria, fungi, insects, amphibians, plants and mammals. A section on marine ecosystem broadens readers understanding on marine based antimicrobial peptides. Additional sections provide an informative overview on peptides with antiviral properties and those targeting multi-drug resistant bacteria. Recent reports and mechanism on resistance against antimicrobial peptides are also provided, along with key insights into the challenges and future perspectives of peptide drug development. - Emphasizes antimicrobial peptides targeting various human viruses and multidrug resistant bacteria - Written by internationally recognized experts who provide readers with a wide and useful perspective - Provides in-depth resources for undertaking a research work in antimicrobial peptides with the inclusion of chapters on purification techniques and structural details - Addresses the possibility and availability of peptide antibiotics in the global drug market - Serves as a complete resource from the discovery to drug development of peptide antibiotics |
| enzyme replacement therapy for pku: Rare Diseases and Orphan Products Institute of Medicine, Board on Health Sciences Policy, Committee on Accelerating Rare Diseases Research and Orphan Product Development, 2011-04-03 Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development. |
| enzyme replacement therapy for pku: Progress in Medical Genetics Marlene A. Horry, 2006 Over the past decade, medical genetics has emerged as an important and powerful medical speciality with increasing appreciation of its role and function among the medical specialities. This emergence is related to a great extent to the progress in the Human Genome Project which promises wide ranging applications in the diagnosis, treatment and prevention of human diseases. Nevertheless, discussions about the role of genetics in preventive medicine and public health rightfully lead to ethical, legal and social concerns about general applicability of genetic testing in the population. The interpretation of the word prevention in the context of genetic diseases leads to the unavoidable discussions of genetic engineering, prenatal diagnosis and selective termination, as well as broader concerns about discrimination in health care coverage, employment and in society. |
| enzyme replacement therapy for pku: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici, 2014-07-08 This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases. |
| enzyme replacement therapy for pku: Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases Nenad Blau, Georg F. Hoffmann, J.V. Leonard, Joe T. R. Clarke, 2006-01-16 This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists. |
| enzyme replacement therapy for pku: Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia G.M. Addison, R. Angus Harkness, D.M Isherwood, R.J. Pollitt, 2012-12-06 |
| enzyme replacement therapy for pku: Comprehensive and Molecular Phytopathology Yuri Dyakov, Vitaly Dzhavakhiya, Timo Korpela, 2007-01-09 This book offers a collection of information on successive steps of molecular 'dialogue' between plants and pathogens. It additionally presents data that reflects intrinsic logic of plant-parasite interactions. New findings discussed include: host and non-host resistance, specific and nonspecific elicitors, elicitors and suppressors, and plant and animal immunity. This book enables the reader to understand how to promote or prevent disease development, and allows them to systematize their own ideas of plant-pathogen interactions.* Offers a more extensive scope of the problem as compared to other books in the market* Presents data to allow consideration of host-parasite relationships in dynamics and reveals interrelations between pathogenicity and resistance factors* Discusses beneficial plant-microbe interactions and practical aspects of molecular investigations of plant-parasite relationships* Compares historical study of common and specific features of plant immunity with animal immunity |
| enzyme replacement therapy for pku: Diagnosis and Treatment in Internal Medicine Patrick Davey, David Sprigings, 2018-08-30 Diagnosis and Treatment in Internal Medicine equips trainee doctors with the essential skills and core knowledge to establish a diagnosis reliably and quickly, before outlining the management of the clinical condition diagnosed. Organised into three sections, the first provides a vital overview, whilst the second focuses on common presentations and diagnoses. Uniquely, this new book shows readers how to turn symptoms into a list of diagnoses ordered by probability - a differential diagnosis. Experienced consultants who teach trainees every day demonstrate how to derive an ordered differential diagnosis, how to narrow this down to a single diagnosis and if not, how to live with diagnostic uncertainty. The final section provides a comprehensive account of the management of system-based syndromes and diseases. Highly-structured chapters emphasize how common conditions present, how to approach a diagnosis, and how to estimate prognosis, treatment and its effectiveness. An onus is placed on the development of crucial diagnostic skills and the ability to devise evidence-based management plans quickly and accurately, making this an ideal text for core medical trainees. |
| enzyme replacement therapy for pku: Nutrient Metabolism Martin Kohlmeier, 2003-10-01 Nutrient Metabolism defines the molecular fate of nutrients and other dietary compounds in humans, as well as outlining the molecular basis of processes supporting nutrition, such as chemical sensing and appetite control. It focuses on the presentation of nutritional biochemistry; and the reader is given a clear and specific perspective on the events that control utilization of dietary compounds. Slightly over 100 self-contained chapters cover all essential and important nutrients as well as many other dietary compounds with relevance for human health. An essential read for healthcare professionals and researchers in all areas of health and nutrition who want to access the wealth of nutrition knowledge available today in one single source.Key Features* Highly illustrated with relevant chemical structures and metabolic pathways* Foreword by Steven Zeisel, Editor-in-chief of the Journal of Nutritional Biochemistry* First comprehensive work on the subject |
| enzyme replacement therapy for pku: Inherited Metabolic Diseases Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, 2009-11-21 The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field. |
| enzyme replacement therapy for pku: Enzymes as Drugs John S. Holcenberg, Joseph Roberts, 1981 |
| enzyme replacement therapy for pku: Hereditary Tyrosinemia Robert M. Tanguay, 2017-07-27 Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field. |
| enzyme replacement therapy for pku: Essential Concepts in Molecular Pathology William B. Coleman, Gregory J. Tsongalis, 2019-11-23 Essential Concepts in Molecular Pathology, Second Edition, offers an introduction to molecular genetics and the molecular aspects of human disease. The book illustrates how pathologists harness their understanding of these entities to develop new diagnostics and treatments for various human diseases. This new edition offers pathology, genetics residents, and molecular pathology fellows an advanced understanding of the molecular mechanisms of disease that goes beyond what they learned in medical and graduate school. By bridging molecular concepts of pathogenesis to the clinical expression of disease in cell, tissue and organ, this fully updated, introductory reference provides the background necessary for an understanding of today's advances in pathology and medicine. - Explains the practice of molecular medicine and the translational aspects of molecular pathology, including molecular diagnostics, molecular assessment and personalized medicine - Orients non-pathologists on what pathologists look for and how they interpret their observational findings based on histopathology - Provides the reader with what is missing from most targeted introductions to pathology—the cell biology behind pathophysiology |
| enzyme replacement therapy for pku: Clinical DNA Variant Interpretation Conxi Lázaro, Jordan Lerner-Ellis, Amanda Spurdle, 2021-02-27 Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. - Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume - Features chapter contributions from international leaders in the field - Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes |
| enzyme replacement therapy for pku: A Guide to Genetic Counseling Wendy R. Uhlmann, Jane L. Schuette, Beverly M. Yashar, 2011-09-20 The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions. |
| enzyme replacement therapy for pku: Reducing Birth Defects Institute of Medicine, Board on Global Health, Committee on Improving Birth Outcomes, 2003-10-27 Each year more than 4 million children are born with birth defects. This book highlights the unprecedented opportunity to improve the lives of children and families in developing countries by preventing some birth defects and reducing the consequences of others. A number of developing countries with more comprehensive health care systems are making significant progress in the prevention and care of birth defects. In many other developing countries, however, policymakers have limited knowledge of the negative impact of birth defects and are largely unaware of the affordable and effective interventions available to reduce the impact of certain conditions. Reducing Birth Defects: Meeting the Challenge in the Developing World includes descriptions of successful programs and presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth defects in developing countries. This study also recommends capacity building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries. |
| enzyme replacement therapy for pku: Biomarkers in Inborn Errors of Metabolism Uttam Garg, Laurie D. Smith, 2017-06-07 Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism |
| enzyme replacement therapy for pku: Atlas of Inherited Metabolic Diseases William L Nyhan, Georg F Hoffmann, 2020-07-14 In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide. |
| enzyme replacement therapy for pku: Erythrocyte Engineering for Drug Delivery and Targeting Mauro Magnani, 2003-01-31 The International Symposia on Plant Lipids, the 15th of which was held in Okazaki, Japan, in May 12-17, 2002, is held every two years and is the only international meeting in this field. The contributions from the symposium collected in this book represent the most up-to-date research results on plant lipids, including their structure, analysis, biosynthesis, regulation, physiological function, environmental aspects, and biotechnology, obtained world-wide during 2000-2002 |
| enzyme replacement therapy for pku: Polysaccharides Severian Dumitriu, 2004-11-30 Completely revised and expanded to reflect the latest advancements in the field, Polysaccharides: Structural Diversity and Functional Versatility, Second Edition outlines fundamental concepts in the structure, function, chemistry, and stability of polysaccharides and reveals new analytical techniques and applications currently impacting the cosmeti |
| enzyme replacement therapy for pku: Neonatal Screening for Inborn Errors of Metabolism H. Bickel, R. Guthrie, G. Hammersen, 2011-11-15 Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy. |
| enzyme replacement therapy for pku: Pediatric Neurology Kenneth F. Swaiman, Stephen Ashwal, Donna M. Ferriero, 2006-01-01 This Gold Standard in clinical child neurology presents the entire specialty in the most comprehensive, authoritative, and clearly written fashion. Its clinical focus, along with relevant science, throughout is directed at both the experienced clinician and the physician in training. New editor, Dr. Ferriero brings expertise in neonatal neurology to the Fourth Edition. New chapters: Pathophysiology of Hypoxic Ischemic Encephalopathy, Congenital Disorders of Glycosylation, Pediatric Neurotransmitter Diseases, Neurophysiology of Epilepsy, Genetics of Epilepsy, Pediatric Neurorehabilitation Medicine, Neuropsychopharmacology, Pain and Palliative Care Management, Ethical Issues in Child Neurology |
| enzyme replacement therapy for pku: Heritable Human Genome Editing The Royal Society, National Academy of Sciences, National Academy of Medicine, International Commission on the Clinical Use of Human Germline Genome Editing, 2021-01-16 Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight. |
| enzyme replacement therapy for pku: Proteostasis and Chaperone Surveillance Laishram Rajendrakumar Singh, Tanveer Ali Dar, Parvaiz Ahmad, 2015-11-26 Proteostasis is central to the development of various human diseases caused due to excessive protein misfolding and the disregulation of the protein quality control system. In this book, respected researchers from many leading institutions contribute their insights on proteostasis maintenance. The coverage mainly focuses on the basics of maintaining proteostasis, the consequences of proteostatic system failure, and how chaperone systems constantly maintain proteostasis. In addition, the book presents in detail different treatment strategies for diseases caused by proteostatic system failure, as well as the inhibition of proteostatic failure using small molecule compounds. It examines advances in the modulation of proteopathies, providing a comprehensive source of key mechanistic insights on these diseases. As such, the book offers a valuable resource for beginners and more experienced investigators alike who are looking for detailed and reliable information on protein homeostasis, the diseases that can develop due to related imbalances and the essential role of molecular and chemical chaperones. |
| enzyme replacement therapy for pku: Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e Sam Goldstein, Cecil R. Reynolds, 2010-10-19 Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates. |
Enzyme - Wikipedia
An enzyme (/ ˈ ɛ n z aɪ m /) is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme …
Enzyme | Definition, Mechanisms, & Nomenclature | Britannica
May 20, 2025 · Enzyme, a catalyst that regulates the rate at which chemical reactions proceed in living organisms without itself being altered in the process. Most critically, enzymes catalyze all …
Enzymes: Function, definition, and examples - Medical News Today
Dec 8, 2023 · Enzymes provide help with facilitating chemical reactions within each cell. Since they are not destroyed during the process, a cell can reuse each enzyme repeatedly. This article...
Enzymes: What Are Enzymes, Pancreas, Digestion & Liver Function
May 12, 2021 · Enzymes are proteins that help speed up chemical reactions in our bodies. Enzymes are essential for digestion, liver function and much more. Too much or too little of a certain …
Enzyme: Definition, Types, Structure, Functions, & Diagram
Nov 11, 2021 · Enzymes are protein macromolecules that are necessary to initiate or speed up the rate of chemical reactions in the bodies of living organisms. The molecules on which enzymes act …
Enzymes - Definition, Examples, Function - Science Notes and …
Mar 25, 2025 · Enzymes are specialized proteins (and in some cases RNA molecules) that act as catalysts in living organisms. They speed up the chemical reactions required for life by lowering …
Enzyme - National Human Genome Research Institute
3 days ago · An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is …
Enzymes: Structure, Types, Mechanism, Functions - Microbe Notes
Nov 9, 2023 · An enzyme is a protein biomolecule that acts as a biocatalyst by regulating the rate of various metabolic reactions without itself being altered in the process.
What Are Enzymes? - BYJU'S
“Enzymes can be defined as biological polymers that catalyze biochemical reactions.” The majority of enzymes are proteins with catalytic capabilities crucial to perform different processes. …
What is an enzyme? | Britannica - Encyclopedia Britannica
An enzyme is a substance that acts as a catalyst in living organisms, regulating the rate at which chemical reactions proceed without itself being altered in the process. The biological processes …
Enzyme - Wikipedia
An enzyme (/ ˈ ɛ n z aɪ m /) is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme …
Enzyme | Definition, Mechanisms, & Nomenclature | Britannica
May 20, 2025 · Enzyme, a catalyst that regulates the rate at which chemical reactions proceed in living organisms without itself being altered in the process. Most critically, enzymes catalyze all …
Enzymes: Function, definition, and examples - Medical News Today
Dec 8, 2023 · Enzymes provide help with facilitating chemical reactions within each cell. Since they are not destroyed during the process, a cell can reuse each enzyme repeatedly. This …
Enzymes: What Are Enzymes, Pancreas, Digestion & Liver Function
May 12, 2021 · Enzymes are proteins that help speed up chemical reactions in our bodies. Enzymes are essential for digestion, liver function and much more. Too much or too little of a …
Enzyme: Definition, Types, Structure, Functions, & Diagram
Nov 11, 2021 · Enzymes are protein macromolecules that are necessary to initiate or speed up the rate of chemical reactions in the bodies of living organisms. The molecules on which …
Enzymes - Definition, Examples, Function - Science Notes and …
Mar 25, 2025 · Enzymes are specialized proteins (and in some cases RNA molecules) that act as catalysts in living organisms. They speed up the chemical reactions required for life by …
Enzyme - National Human Genome Research Institute
3 days ago · An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction …
Enzymes: Structure, Types, Mechanism, Functions - Microbe Notes
Nov 9, 2023 · An enzyme is a protein biomolecule that acts as a biocatalyst by regulating the rate of various metabolic reactions without itself being altered in the process.
What Are Enzymes? - BYJU'S
“Enzymes can be defined as biological polymers that catalyze biochemical reactions.” The majority of enzymes are proteins with catalytic capabilities crucial to perform different …
What is an enzyme? | Britannica - Encyclopedia Britannica
An enzyme is a substance that acts as a catalyst in living organisms, regulating the rate at which chemical reactions proceed without itself being altered in the process. The biological …
