P115: Long-term exposure to galactitol leads to progression of symptoms in patients with classic galactosemia*
Abstract
Galactosemia is a rare, autosomal recessive metabolic disease caused by severe deficiency in galactose-1-phosphate uridylyltransferase (GALT) enzyme. This severe enzyme deficiency leaves patients unable to metabolize galactose properly. Excess galactose is metabolized via Aldose Reductase (AR) through the polyol pathway resulting accumulation of galactitol, an end-stage sugar alcohol which accumulates in cells and tissues along with galactose and galactose-1-phosphate (Gal-1P). Galactitol is not cell membrane permeable and accumulation results in reactive oxidative stress, NADPH depletion, and mitochondrial dysfunction within cells.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Aldose Reductase and Taurine
Lysosomal Storage Disorders Research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103609–103609
- Publication date
- 1 January 2026
- Language
- EN