Transaldolase deficiency

Transaldolase deficiency is a disease characterised by abnormally low levels of the transaldolase enzyme, a metabolic enzyme involved in the pentose phosphate pathway. It is caused by a mutation in the transaldolase gene, called TALDO1. The condition was first described by Verhoeven and colleagues in 2001. Because the enzyme takes part in the pentose phosphate pathway, a core route of carbohydrate metabolism, the disorder is classed among the inherited metabolic diseases, and it is defined by the enzyme shortfall and the gene change that produces it rather than by one single clinical sign.