pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
MONDO:0019169
pyruvate dehydrogenase deficiency
is_a
PDHAD
exact
ataxia with lactic acidosis 1
related
ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency
related
pyruvate decarboxylase deficiency
broad
pyruvate dehydrogenase E1-alpha deficiency
exact
pyruvate dehydrogenase complex E1 component subunit alpha deficiency
exact
pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant
exact
SPAC26F1.03