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.

The transaldolasemangel belongs to the metabolic diseases. This is due to a mutation in the transaldolase gene, which leads to a disruption of the pentose phosphate pathway.

Symptoms of this disorder are hydrops fetalis, hepatosplenomegaly, liver dysfunction, thrombocytopenia and anemia. The disease is inherited as an autosomal recessive trait.