List Of Inborn Error Of Metabolism
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Health TopicsDrugs & SupplementsVideos & Tools Español You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism URL of this inborn errors of metabolism chart page: //medlineplus.gov/ency/article/002438.htm Inborn errors of metabolism To use the sharing features on inborn errors of metabolism made easy this page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which the
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body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. A food
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product that is not broken down into energy can build up in the body and cause a wide range of symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled. There are many different types of inborn errors of metabolism. A few of them are:Fructose intoleranceGalactosemiaMaple sugar urine disease (MSUD)Phenylketonuria inborn errors of metabolism pdf (PKU) Newborn screening tests can identify some of these disorders.Registered dietitians and other health care providers can help create a diet that is right for each specific disorder.Alternative Names Metabolism - inborn errors ofImages Galactosemia References Bodamer OA. Approach to inborn errors of metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 205.Rezvani I, Rezvani G. An approach to inborn errors of metabolism. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 78. Review Date 4/20/2015 Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Metabolic Disorders Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to veri
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
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that code for enzymes that facilitate conversion of various substances (substrates) inborn errors of protein metabolism into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic inborn errors of metabolism treatment or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases https://medlineplus.gov/ency/article/002438.htm 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 published in 1923.[1] Contents 1 Classification 2 https://en.wikipedia.org/wiki/Inborn_error_of_metabolism 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.g., Lesch-Nyhan syndrome Disorders of steroid metabolism E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hy
allows you to search in the languages below. Please select http://www.uptodate.com/contents/inborn-errors-of-metabolism-classification your preference. Topics will continue to be in English. 简体中文 繁體中文 Deutsch English Español Français Italiano 日本語 한국어 * Português *Currently in beta testing. Languages About http://www.medicinenet.com/script/main/art.asp?articlekey=3951 Us News & Events Contact Us Help Why UpToDate? Product Editorial Subscription Options Subscribe Official reprint from UpToDate www.uptodate.com ©2016 UpToDate Print | Back Inborn inborn error 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, MD, MSDeputy Editor — Allergy inborn errors of 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 than one category. These major categories can be further grouped based
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