[3] The leading symptoms of Transaldolase Deficiency are coagulopathy, thrombocytopenia, hepatosplenomegaly, hepatic fibrosis and dysmorphic features.

[4][5] With transaldolase deficiency there is a buildup of sedoheptulose 7-phosphate (it is increased six to sevenfold in the blood compared to normal), which decreases the change of ribose 5-phosphate into glucose 6-phosphate.

Autozygome analysis and biochemical evaluations of urinary sugars and polyols can be used to diagnose Transaldolase Deficiency.

[12] Two specific methods for measuring the urinary sugars and polyols are liquid chromatographytandem mass spectrometry and gas chromatography with flame ionization detection.

A study done in 2009 used orally administered N-acetylcysteine on transaldolase deficient mice and it prevented the symptoms associated with the disease.