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Disease Pyruvate Dehydrogenase Complex Deficiency Disease

Name Pyruvate Dehydrogenase Complex Deficiency Disease
Synonyms Ataxia, Intermittent, with Abnormal Pyruvate Metabolism | ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY | Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency | Ataxia with Lactic Acidosis | Ataxia with Lactic Acidosis I | ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED | Ataxia with Lactic Acidosis, Type I | Deficiency, PDH | Deficiency, PDHC | Deficiency, Pyruvate Decarboxylase | Deficiency, Pyruvate Dehydrogenase | Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency | Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease | Lactic Acidosis with Ataxia, Type I | Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease | PDHAD | PDHC Deficiency | PDHC Deficiency Disease | PDH Deficiency | Pyruvate Decarboxylase Deficiency | Pyruvate Dehydrogenase Complex Deficiency | Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile | Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal | Pyruvate Dehydrogenase Deficiency | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY | Type I Ataxia with Lactic Acidosis
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D015325
OMIM® ID 312170
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Mental Retardation, X-Linked Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
  Phosphoenolpyruvate carboxykinase 2 deficiency Has associated chemicals Has associated genes
  Pyruvate Dehydrogenase E1-Beta Deficiency
  Pyruvate Dehydrogenase E2 Deficiency Has associated chemicals Has associated genes
  Pyruvate Dehydrogenase E3-Binding Protein Deficiency Has associated chemicals Has associated genes