Albinism Is Caused By An Inborn Error Of Metabolism
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Google+ Yahoo Remember Me Forgot password? Register Getour app DictionaryThesaurusMedicalDictionaryLegalDictionaryFinancialDictionaryAcronymsIdiomsEncyclopediaWikipediaEncyclopedia Tools A A A A Language: EnglishEspañolDeutschFrançaisItalianoالعربية中文简体PolskiPortuguêsNederlandsNorskΕλληνικήРусскийTürkçeאנגלית Mobile Apps: apple android For http://patient.info/doctor/inborn-errors-of-metabolism-an-introduction surfers: Free toolbar & extensions Word of the Day Help For webmasters: Free content Linking Lookup box Close inborn error of metabolism Also found in: Dictionary, Thesaurus, Legal, Acronyms, Encyclopedia, Wikipedia.Related to inborn error of metabolism: metabolic disorder, phenylketonuria error[er´or] a defect or mistake http://medical-dictionary.thefreedictionary.com/inborn+error+of+metabolism in structure or function.inborn error of metabolism a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathologic consequences at birth, as in phenylketonuria, or in later life.measurement error the difference between what exists in reality and what is measured by a measurement method.Type I error the rejection of a null hypothesis that is true.Type II error acceptance of a null hypothesis that is false.inborn error of metabolisma group of disorders, each of which involves a disorder of a single unique enzyme, genetic in origin and operating from birth; effects are ascribable to accumulation of the substrate on which the enzyme normally acts (for example, phenylketonuria), to deficiency of the product of the enzyme (for example, albinism), or to forcing metabo
D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes https://en.wikipedia.org/wiki/Inborn_error_of_metabolism that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215002/ the effects of reduced ability to 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 inborn error 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 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 inborn error of 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-hydroxyglutaric acidurias Disorders of fatty acid oxidation and mitochondrial metabolism E.g., Medium-chain acyl-coenzyme A dehydrogenase deficiency (often shortened to MCADD.) Disorders of porphyrin metabolism E.g., acute intermittent porphyria Disorders of purine or pyrimidine metabolism E.g., Lesch-Nyhan syndrome Disorders of steroid metabolism E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia Disorders of mitochondrial function E.g., Kearns-Sayre syndrome Disorders of peroxisomal function E.g., Zellweger syndrome Lysosomal storage disorders E.g., Gaucher's disease E.g., Niemann Pick disease Signs and symptoms[edit] Because
Health Search databasePMCAll DatabasesAssemblyBioProjectBioSampleBioSystemsBooksClinVarCloneConserved DomainsdbGaPdbVarESTGeneGenomeGEO DataSetsGEO ProfilesGSSGTRHomoloGeneMedGenMeSHNCBI Web SiteNLM CatalogNucleotideOMIMPMCPopSetProbeProteinProtein ClustersPubChem BioAssayPubChem CompoundPubChem SubstancePubMedPubMed HealthSNPSRAStructureTaxonomyToolKitToolKitAllToolKitBookToolKitBookghUniGeneSearch termSearch Advanced Journal list Help Journal ListProc Natl Acad Sci U S Av.108(45); 2011 Nov 8PMC3215002 Proc Natl Acad Sci U S A. 2011 Nov 8; 108(45): 18313–18317. Published online 2011 Oct 31. doi: 10.1073/pnas.1115888108PMCID: PMC3215002GeneticsGarrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuriaSarah B. Pierce,a,b Cailyn H. Spurrell,a,b Jessica B. Mandell,a Ming K. Lee,a,b Sharon Zeligson,c Michael S. Bereman,b Sunday M. Stray,a Siv Fokstuen,d Michael J. MacCoss,b Ephrat Levy-Lahad,c Mary-Claire King,a,b,1 and Arno G. Motulskya,b,1aDepartment of Medicine, Division of Medical Genetics, andbDepartment of Genome Sciences, University of Washington, Seattle, WA 98195-7720;cMedical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 91031, Israel; anddGenetic Medicine, University Hospitals of Geneva, 1211 Geneva 4, Switzerland1To whom correspondence may be addressed. E-mail: ude.wu@gnikcm or ; Email: ude.wu@tomga.Contributed by Mary-Claire King, September 27, 2011 (sent for review September 14, 2011)Author contributions: S.B.P., E.L.-L., M.-C.K., and A.G.M. designed research; S.B.P., C.H.S., J.B.M., M.S.B., S.M.S., S.F., M.J.M., E.L.-L., M.-C.K., and A.G.M. performed research; S.B.P., M.S.B., and M.J.M. contributed new reagents/analytic tools; S.B.P., M.K.L., S.Z., M.S.B., and M.-C.K. analyzed data; and S.B.P., E.L.-L., M.-C.K., and A.G.M. wrote the paper.Author information ► Copyright and License information ►Copyright notice This article has been cited by other articles