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[Cataract by galactokinase deficiency (author's transl)]
Klinische Monatsblatter Fur Augenheilkunde
|April 1, 1975
Summary
An infant with a galactokinase defect showed lens cloudiness that cleared with diet. Follow-up revealed typical zonular opacities, indicating long-term effects of galactosemia on the eye.
Area of Science:
- Ophthalmology
- Metabolic Disorders
- Genetics
Background:
- Inborn errors of metabolism can affect ocular health.
- Galactokinase deficiency is a rare genetic disorder affecting galactose metabolism.
- Cataracts are a known complication of galactosemia.