GALT AR unreviewed
Classic galactosaemia
Enzyme or protein defect
Galactose-1-phosphate uridylyltransferase
Accumulates or becomes deficient
Galactose-1-phosphate, galactitol
Key features
Cataracts, jaundice, hepatomegaly, intellectual disability, E. coli sepsis
Management
Exclude galactose and lactose
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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