Pyruvate Dehydrogenase Complex Deficiency Disease

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Is a:
  • Disease or Syndrome
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.
Synonyms:
  • Ataxia with Lactic Acidosis, Type I
  • Deficiency Disease, PDHC
  • Deficiency Diseases, PDHC
  • Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
  • Lactic Acidosis with Ataxia, Type I
  • Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease
  • PDHC Deficiency Disease
  • PDHC Deficiency Diseases
  • Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile
  • Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
  • Type I Ataxia with Lactic Acidosis
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