pyruvate dehydrogenase phosphatase deficiency
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
MONDO:0019169
pyruvate dehydrogenase deficiency
is_a
PDH phosphatase deficiency
exact
PDHPD
related
pyruvate dehydrogenase phosphatase deficiency
exact
SPAC10F6.17c