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.

Epidemiology

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

Clinical description

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.

Etiology

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