Galactose-1P uridylyltransferase deficiency

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.