pyruvate dehydrogenase deficiency
A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0016789
pyruvate metabolism disorder
is_a
MONDO:0019214
inborn carbohydrate metabolic disorder
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
PDH
exact
PDHC
exact
Pyruvate Dehydrogenase Complex Deficiency
exact
pyruvate decarboxylase deficiency
exact
pyruvate dehydrogenase complex deficiency
exact
pyruvate dehydrogenase deficiency
exact
SPBC8D2.15 SPCC1259.09c SPBC30D10.13c SPAC10F6.17c SPAC1002.09c SPAC26F1.03 SPCC794.07