Transaldolase deficiency

Orpha code: 101028OMIM code: 606003

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.

Disease data
Classification

Disease

Synonyms
TALDO deficiency
Niedobór TALDO
ORPHA code
101028
OMIM code
606003
ICD10 code
E74.8
ICD11 code
-

No additional description.

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