Enzyme or protein defect
Galactokinase
Accumulates or becomes deficient
Galactitol
Key features
Isolated cataracts, no hepatic or CNS disease
Management
Exclude galactose
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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