Galactosemia type I results from mutations in GALT encoding the galactose-1-phosphate uridylyltransferase. It is the most commonly detected clinically severe form of galactosemia. Patients may develop a pathology that includes failure to thrive, vomiting, jaundice, and sometimes bacterial infection. In the long term, disabilities in learning, speech, ovarian function, and movement can manifest.
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
