galactosemia
Findings
No curated finding names galactosemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
Definition from the Mondo Disease Ontology (MONDO:0018116), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GALTHGNC:4135
- Definitive · Myriad Women's Health · Autosomal recessive · 2018