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Pyruvate Dehydrogenase Complex Deficiency Disease
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease 34 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Pyruvate Dehydrogenase Complex Deficiency Disease |
Annotation: | DF: PDHC DEFIC DIS
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History note: | Pyruvate Dehydrogenase Complex/deficiency (1974-1988)X |
historyNote*: | 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
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publicMeSHNote*: | 2000; see PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
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Scope note: | An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
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activeMeSHYear*: | 2007X |
dateCreated*: | 1988-06-01X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | EJBX |
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Labels and equivalent concepts: | Pyruvaattidehydrogenaasikompleksin puutos (fi) XPyruvate Dehydrogenase Complex Deficiency Disease, Juvenile (en, replaced) Type I Ataxia with Lactic Acidosis (en, replaced) PDHC Deficiency Disease (en, replaced) Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease (en, replaced) Lactic Acidosis with Ataxia, Type I (en, replaced) Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa (es) Komplexe Pyruvatdehydrogenase-Mangelkrankheit (de) pyruvátdehydrogenasový komplex - nedostatek (cs) Acidosis Láctica con Ataxia Tipo I (es, replaced) Acidosis Láctica Tipo I con Ataxia (es, replaced) Ataxie mit Laktazidose, Typ I (de, replaced) Laktatazidose mit Ataxie, Typ I (de, replaced) Laktazidose mit Ataxie, Typ I (de, replaced) Ataxie mit Laktatazidose, Typ I (de, replaced) |
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