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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H02008 Galactose-1P uridylyltransferase deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06023 Galactose degradation
H02008 Galactose-1P uridylyltransferase deficiency
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
