Sorbitol dehydrogenase deficiency

A random urine sample can be used for the analysis of polyols. TALDO and RPI deficiencies, as well as galactosaemia and presumably sorbitol dehydrogenase deficiency, can be diagnosed using urine. The samples are stored frozen. Repeated freeze-thawing does not influence the concentrations of the polyols. 

Elevated total C6 may point to galactosaemia, or alternatively sorbitol dehydrogenase deficiency. Galactitol was found to be increased in both treated and untreated galactosaemia patients. 

L.A., Nadal, L, Monedero, V. et al (2010) Sorbitol production om lactose by engineered Lactobacillus casei deficient in sorbitol transport system and mannitol-l-phosphate dehydrogenase. Appl. Microbiol Biotechnol, 85, 1915-1922. 

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