Transaldolase deficiency

The Transaldolasemangel belongs to the metabolic diseases. It is caused by a mutation in the transaldolase gene, which leads to a disruption of the pentose phosphate pathway.

Symptomatically, this disorder results in hydrops fetalis, hepatosplenomegaly, liver dysfunction, thrombocytopenia, and anemia. The disease is inherited as an autosomal recessive trait.