Tell us about your symptoms and treatment experience. Take our survey here.
Transaldolase deficiency
What is 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.