Transaldolase Deficiency is an inborn error of the non-oxidative phase of the pentose phosphate pathway. This pathway provides the resources for both nucleic acid and lipid biosynthesis. Patients affected with this condition present with a wide clinical manifestations, which includes hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, male infertility, and anemia. The kidneys, lungs and heart are also affected. Patients may show dysmorphic features including downward-slanting palpebral fissures, low-set ears, and cutis laxa. The condition is extremely rare, with only about 20 cases so far having been reported.
Diagnosis is made on the basis of the clinical features. One of the hallmarks of the condition is the presence of abnormal urinary polyol concentration. Mutation analysis of the TALDO1 gene is used for confirmation of the diagnosis. At present, there is no treatment for the condition. Some patients might benefit from liver transplantation. Other treatment options are in the experimental stage.