An Inborn Error
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D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The inborn error of metabolism majority are due to defects of single genes that code
Inborn Error Of Metabolism List
for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of
Inborn Error Of Metabolism Diagnosis
the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to
Inborn Error Of Metabolism Review
synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases. The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on inborn error of fatty acid metabolism his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.[1] Contents 1 Classification 2 Signs and symptoms 3 Diagnosis 4 Treatment 5 Epidemiology 6 References 7 External links Classification[edit] Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do not fall into these categories. Disorders of carbohydrate metabolism E.g., glycogen storage disease Disorders of amino acid metabolism E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects E.g., Carbamoyl phosphate synthetase I deficiency Disorders of organic acid metabolism (organic acidurias) E.g., alcaptonuria, 2-hydroxy
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to log out of Medscape. If you log out, you inborn error of metabolism examples will be required to enter your username and password the next time inborn error of metabolism definition you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctY2xpbmljYWw= processing.... Inborn Errors of MetabolismClinical Presentation Author: Debra L Weiner, MD, inborn error of metabolism symptoms PhD; Chief Editor: Stephen Kemp, MD, PhD more... Overview Presentation DDx Workup Treatment Medication Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section https://en.wikipedia.org/wiki/Inborn_error_of_metabolism Print the entire contents of History Physical Causes Show All Tables References History The history varies with age at presentation and is a function of the age at which various inborn errors of metabolism (IEMs) manifest clinically. The patient’s history may include the following: Symptoms that range from abrupt in onset and episodic to chronic and progressive Poor feeding, http://emedicine.medscape.com/article/804757-clinical vomiting, failure to thrive, lethargy Developmental delay, sometimes with loss of milestones Onset of symptoms with change in diet and unusual dietary preferences, particularly protein or carbohydrate aversion Decompensation out of proportion to what would be expected from intercurrent infection Similar findings of unexplained neonatal or sudden infant deaths in siblings or maternal male relatives (A negative family history does not rule out IEM.) Possible parental consanguinity (increases the likelihood of autosomal recessive IEM) Neonate Consider an inborn error of metabolism (IEM) in any critically ill neonate. Frequently, the most important clue is a history of deterioration, often life-threatening, after an initial period of apparent good health ranging from hours to weeks, usually following an uncomplicated pregnancy and delivery in a term infant. In term infants without risk for sepsis who develop the symptoms of sepsis, metabolic disease may be nearly as common as sepsis. A negative newborn screen result does not exclude diagnosis of metabolic disease. Nearly all states and many countries test newborns for a core set of 29 diseases, and many test for more th
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Health Search databasePMCAll DatabasesAssemblyBioProjectBioSampleBioSystemsBooksClinVarCloneConserved DomainsdbGaPdbVarESTGeneGenomeGEO DataSetsGEO ProfilesGSSGTRHomoloGeneMedGenMeSHNCBI Web SiteNLM CatalogNucleotideOMIMPMCPopSetProbeProteinProtein ClustersPubChem BioAssayPubChem CompoundPubChem SubstancePubMedPubMed HealthSNPSRAStructureTaxonomyToolKitToolKitAllToolKitBookToolKitBookghUniGeneSearch termSearch Advanced Journal list Help Journal ListClin Biochem Revv.29(1); 2008 FebPMC2423317 Clin Biochem Rev. 2008 Feb; 29(1): 31–41. PMCID: PMC2423317Phenylketonuria: An Inborn Error of Phenylalanine MetabolismRobin A Williams,1,2,* Cyril DS Mamotte,2 and John R Burnett1,3,*1 Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, WA 68472 School of Biomedical Sciences, Curtin University of Technology, Bentley, WA 60013 School of Medicine & Pharmacology, University of Western Australia, Nedlands, WA 6009, Australia*For correspondence: Mr Robin Williams e-mail: ua.vog.aw.htlaeh@smailliw.nibor and Clin Prof John Burnett e-mail: john. ua.vog.aw.htlaeh@ttenrubAuthor information ► Copyright and License information ►The contents of articles or advertisements in The Clinical Biochemist – Reviews are not to be construed as official statements, evaluations or endorsements by the AACB, its official bodies or its agents. Statements of opinion in AACB publications are those of the contributors. Print Post Approved - PP255003/01665. Copyright © 2005 The Australasian Association of Clinical Biochemists Inc. No literary matter in The Clinical Biochemist – Reviews is to be reproduced, stored in a retrieval system or transmitted in any form by electronic or mechanical means, photocopying or recording, without permission. Requests to do so should be addressed to the Editor. ISSN 0159 – 8090This article has been cited by other articles in PMC.AbstractPhenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from defi