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Diagnosis of transaldolase (TALDO) deficiency or ribose-5-phosphate isomerase (RPI) deficiency
Transaldolase (TALDO) deficiency and ribose-5-phosphate (RPI) deficiency are 2 recently described multisystem disorders of the pentose phosphate pathway.
Polyols analysis in urine is the method of choice for detecting TALDO deficiency and RPI deficiency.
Confirmation of a positive result via molecular analysis is recommended.
Gas Chromatography/Mass Spectrometry (GC/MS)