Classification Of Inborn Error Of Metabolism
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Inborn Error Of Metabolism Ppt
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| Back Inborn errors of metabolism: Classification AuthorV Reid Sutton, MDV Reid Sutton, MDProfessor of Molecular and Human Genetics Baylor College of MedicineSection EditorSihoun Hahn, MD, PhDSihoun Hahn, MD, PhDSection Editor — Genetics Professor of Pediatrics University of Washington School of Medicine, Seattle Children's HospitalDeputy EditorElizabeth TePas, MD, MSElizabeth TePas, inborn error of metabolism diagnosis MD, MSDeputy Editor — Allergy and Immunology Deputy Editor — Pediatrics Instructor in Medicine Harvard Medical School INTRODUCTIONCongenital metabolic disorders result from the absence or abnormality of an enzyme or its cofactor, leading to either accumulation or deficiency of a specific metabolite (table 1 and table 2 and table 3 and table 4 and table 5 and table 6).The major classes of inborn errors of metabolism (IEM) and their characteristic clinical and biochemical features are described below. The epidemiology, pathogenesis, clinical presentation, evaluation, and initial management of IEM are discussed separately, as are specific disorders. (See "Inborn errors of metabolism: Metabolic emergencies" and "Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features" and "Inborn errors of metabolism: Identifying the specific disorder".)CLASSIFICATIONThe traditional classification system for inborn errors of metabolism (IEM) groups the disorders according to the general type of metabolism involved. Some diseases fit into more
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
Inborn Error Of Metabolism Review
of single genes that code for enzymes that facilitate conversion of inborn error of metabolism definition various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of an inborn error of metabolism is caused by substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred http://www.uptodate.com/contents/inborn-errors-of-metabolism-classification 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 his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was https://en.wikipedia.org/wiki/Inborn_error_of_metabolism 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-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.
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