Galactosemia Type 1 (Classic Type)
Pathogenesis (Leukodystrophy, Fatty Acid Disorder)
- Deficiency in the enzyme required to breakdown galactose to glucose, which results in toxic accumulation of galactose and related compounds.
Clinical
- Onset: Infancy
- Systemic manifestations: Failure to Thrive, Liver Failure, Pancytopenia (Bleeding/Infections), Cataracts
- Neurological manifestations: Cognitive Delay
- Treatment: Low-galactose diet
Genetics
- GALT gene mutation
- Autosomal recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov