Transaldolase deficiency

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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.

Less than ten cases have been reported in the literature so far, all involving children born to consanguineous parents of Turkish and Arabic origin.

Dysmorphic features (downward-slanting palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity of the symptoms and outcome vary widely.

The disorder is caused by mutations in the transaldolase gene (TALDO1, 11p15.5-p15.4).

Visit the Orphanet disease page for more resources.

Last updated: 3/1/2009

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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.