The way property values are displayed:
The way concept relations are shown:
The way concept relations are shown:
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
X |
History note: | Pyruvate Dehydrogenase Complex/deficiency (1974-1988)X |
historyNote*: | 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
X |
publicMeSHNote*: | 2000; see PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
X |
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.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1988-06-01X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | EJBX |
Related term: | |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Pyruvaattidehydrogenaasikompleksin puutos (fi) XPyruvaattidehydrogenaasikompleksin puute (fi, replaced) Type I Ataxia with Lactic Acidosis (en, replaced) Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile (en, replaced) PDHC Deficiency Disease (en, replaced) Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease (en, replaced) Lactic Acidosis with Ataxia, Type I (en, replaced) |
Share: |
Loading results...