Engelsk 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.
Svenska synonymer
PDHC-bristsjukdom — Ataxi med mjölksyraacidos, typ I
Engelska synonymer
PDH Deficiency — Deficiency, PDH — Ataxia, Intermittent, with Abnormal Pyruvate Metabolism — Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency — PDHC Deficiency Disease — Pyruvate Dehydrogenase Deficiency — Deficiency, Pyruvate Dehydrogenase — Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency — PDHC Deficiency — Deficiency, PDHC — Pyruvate Decarboxylase Deficiency — Deficiency, Pyruvate Decarboxylase — Pyruvate Dehydrogenase Complex Deficiency — Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal — Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease — Ataxia with Lactic Acidosis, Type I — Ataxia with Lactic Acidosis — Type I Ataxia with Lactic Acidosis — Lactic Acidosis with Ataxia, Type I — Ataxia with Lactic Acidosis I — Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease — Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile