pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
MONDO:0009637
inborn mitochondrial myopathy
excluded_subClassOf
MONDO:0009563
maple syrup urine disease
is_a
MONDO:0018424
inherited lipoic acid biosynthesis defect
is_a
MONDO:0019169
pyruvate dehydrogenase deficiency
is_a
DLD deficiency
exact
DLDD
related
E3-deficient maple syrup urine disease
exact
dihydrolipoamide dehydrogenase deficiency
exact
maple syrup urine disease, type III
related
pyruvate dehydrogenase E3 deficiency
exact
SPAC1002.09c