transaldolase deficiency
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
MONDO:0019231
inborn disorder of pentose phosphate metabolism
is_a
TALDO deficiency
exact
transaldolase deficiency
exact
SPCC1020.06c