Transaldolase deficiency
Transaldolase deficiency
Definition
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.
Also known as TALDO deficiency, transaldolase deficiency — per MONDO