pyruvate decarboxylase deficiency (Q7263801)

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carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex
  • deficiency of pyruvic dehydrogenase
  • pyruvate dehydrogenase complex deficiency disease
  • pyruvate dehydrogenase deficiency
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
  • Lactic Acidemia, Thiamine-Responsive
  • Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency
  • Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
  • Pdh Deficiency
  • Ataxia With Lactic Acidosis 1
  • Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
  • PDHAD
  • Pyruvate decarboxylase deficiency
  • Pyruvate Dehydrogenase Complex Deficiency
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
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Language Label Description Also known as
English
pyruvate decarboxylase deficiency
carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex
  • deficiency of pyruvic dehydrogenase
  • pyruvate dehydrogenase complex deficiency disease
  • pyruvate dehydrogenase deficiency
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
  • Lactic Acidemia, Thiamine-Responsive
  • Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency
  • Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
  • Pdh Deficiency
  • Ataxia With Lactic Acidosis 1
  • Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
  • PDHAD
  • Pyruvate decarboxylase deficiency
  • Pyruvate Dehydrogenase Complex Deficiency
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY

Statements

Identifiers

Pyruvate Dehydrogenase Complex Deficiency Disease
0 references
5C53.02
Pyruvate dehydrogenase complex deficiency
0 references
0 references
 
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