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.

Other condition names

  • TALDO deficiency

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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