pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
MONDO:0019169
pyruvate dehydrogenase deficiency
is_a
PDHBD
exact
pyruvate dehydrogenase E1-beta deficiency
exact
pyruvate dehydrogenase complex E1 component subunit beta deficiency
exact
SPBC30D10.13c