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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
lipoic acid synthetase deficiency
MONDO:0013762
maple syrup urine disease, mild variant
MONDO:0014057
lipoyl transferase 1 deficiency
MONDO:0014576
spasticity-ataxia-gait anomalies syndrome
MONDO:0014803
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
MONDO:0015003
classic maple syrup urine disease
MONDO:0017051