Pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase complex deficiency (disorder)

active

Code	`46683007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Ataxia with lactic acidosis
Ataxia with lactic acidosis I
Deficiency of pyruvate dehydrogenase (cytochrome)
Deficiency of pyruvic dehydrogenase
PDH - Pyruvate dehydrogenase deficiency
PDH deficiency
Pyruvate dehydrogenase deficiency

Parents (2)

53210006Inborn error of pyruvate metabolism disorder
91273001Lactic acidosis disorder

Children (4)

1003851001Pyruvate dehydrogenase complex E1 beta subunit deficiency disorder
1003850000Pyruvate dehydrogenase complex E1-alpha subunit deficiency disorder
1003849000Pyruvate dehydrogenase complex E2 subunit deficiency disorder
1003847003Pyruvate dehydrogenase phosphatase deficiency disorder