An Inborn Error Of Protein Metabolism
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Products RecipesProducts & Partners What's on an inborn error of metabolism is caused by National ConferenceIn my statePast events in your stateRare Disease Day 2012Team http://oxfordmedicine.com/view/10.1093/med/9780199204854.001.1/med-9780199204854-chapter-1202 MDDA About Us About the MDDAMembership Options Resources & Links Sponsors & Support GroupsMedical & Professional ResourcesLatest NewsPKU HandbookIEM Grant Contact Us National Office http://www.cvent.com/events/metabolic-dietary-disorder-association/custom-37-54c1b71cb2654493a908716970c83cc2.aspx (Contact us)Committee MembersLink People Member Logon Sign in Facebook Twitter Tweet LinkedIn Google Plus Inborn Errors of Protein Metabolism Include: Phenylketonuria (PKU)the most common diagnosis Urea Cycle Disorders0TC, Argininosuccinicaciduria, Citrullinaemia Amino Acid disordersHomocystinuria, Lysinic Protein Intolerance (LPI), Maple Syrup Urine Disease (MSUD), Non-ketonic Hyperglycinaemia, Orthinine amino-transferase deficiency, Tyrosinaemia Organic Acidaemia'sIsolated Deficiency of 3-Methylcrotonyl CoA Carboxylase (3MCC), Glutaric aciduria, Methylmalonic Acidemia (MMA), Proprionic acidaemia Existing Member Sign In Top
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to http://emedicine.medscape.com/article/804757-overview log out of Medscape. If you log out, you will http://patient.info/doctor/inborn-errors-of-metabolism-an-introduction be required to enter your username and password the next time you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctb3ZlcnZpZXc= processing.... Inborn Errors of Metabolism Author: Debra L Weiner, MD, PhD; Chief Editor: Stephen Kemp, MD, PhD more... Overview Presentation DDx Workup inborn error Treatment Medication Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section Print the entire contents of Background Pathophysiology Epidemiology Show All Tables References Background Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy inborn error of but can occur at any time, even in adulthood. Diagnosis does not require extensive knowledge of biochemical pathways or individual metabolic diseases. An understanding of the major clinical manifestations of inborn errors of metabolism provides the basis for knowing when to consider the diagnosis. A high index of suspicion is most important in making the diagnosis. For patients with suspected or known inborn errors of metabolism, successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization. Asymptomatic neonates with newborn screening results positive for an inborn error of metabolism may require emergent evaluation including confirmatory testing, and as appropriate, initiation of disease-specific management. Next Pathophysiology Single gene defects result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, fats, or complex molecules. Most are due to a defect in an enzyme or transport protein, which results in a block in a metabolic pathway. Effects are due to to
slideshowsWatch and learn about your health Symptom CheckerHelp diagnose common conditions MyHealthCheck and improve your health Clinical TrialsApply for a trial near you Decision AidsHelp choosing the right treatmentMedicines Search health information A B C D E F G H I J K L M N O P Q R S T U V W X Y ZProfessional Reference Search professional reference A B C D E F G H I J K L M N O P Q R S T U V W X Y ZBrowse clinical guidelines PatientPro CompleteCreate a reflective diary, track the pages you read and get ads free experience Medical Calculators Articles for medical students New leaflets and updates Decision AidsForumsDirectoryBlogsPatient Access Sign in RegisterWelcome to PatientRegisterPatient AccessPatient- MyHealth- Forums- PatientPro|Sign inPatient AccessPatient- MyHealth- Forums- PatientProMyHealth | Blogs | Shop | Symptom checker Search Patient Home Professional Reference Inborn Errors of Metabolism - an IntroductionInborn Errors of Metabolism - an Introduction 677 Users are discussing this topic Article Related Support Discuss Print PDF Email Bookmark Bookmarked Remove? CancelYou must be signed in to bookmark pagesView All NotesCancelYou must be signed into your pro account to make notes Listen On this pageEpidemiologyPresentationClassificationManagementPreventionReferencesPatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.677 See also: Glycogen Storage Disorders written for patientsInborn errors of metabolism (IEMs) comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting in either accumulation of substrate behind the block or deficiency of the product.IEMs are defined by:Their clinical features.Specific enzyme affected.Their pattern of inheritance.EpidemiologyThe incidence is 40 cases/100,000 live births in a Canadian study.[1]A much higher incidence of 1 in 784 live births has been reported from the West Midlands in the UK.[2]This is attributed to the effect of ethnicity and consanguinity in the local population. Likewise a high incidence of 150 cases per 100,000 liv