Galactosemia Pathogenesis: The Role of Toxic Galactitol

Описание: Galactosemia Pathogenesis: The Role of Toxic Galactitol—An in-depth clinical review of this rare, autosomal recessive metabolic disorder (1-3).

Take a deep dive into the science behind the disease pathology and the metabolic processes of Classic Galactosemia. Patients with Classic Galactosemia are either missing, or have low levels of the GALT enzyme responsible for catalyzing Gal-1p (1,3). This leads to the upstream accumulation of Gal-1p and galactose. As a result, galactose becomes a substrate of Aldose Reductase, leading to production of the aberrant toxic metabolite galactitol 1,3. In patients with Classic Galactosemia, the accumulation of toxic galactitol may contribute to central nervous system (CNS) and liver damage (1,2).

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REFERENCES:
1. Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I. Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis. 2017;40:325-342. doi:10.1007/s10545-017-0029-3
2. Forges T, et al. Pathophysiology of impaired ovarian function in galactosemia. Human Reprod. 2006;12(5):573-584.
3. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. In: Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; February 4, 2000.