title: Macular deposits in galactokinase deficiency.
abstract: Deficiency of the enzyme, galactokinase, is a recognized cause of "juvenile" lens opacities; these opacities are felt to be its only clinical expression. The deficiency itself is inherited as an autosomal recessive and as such is expected to be clinically manifest in the homozygote. We have recently demonstrated cataracts and associated bilateral macular deposits in a white male who is heterozygous for the deficiency of the enzyme and whose dietary intake of milk and its products is extremely high. To our knowledge, intraretinal deposits have not previously been described in patients with galactokinase deficiency, and their clinical significance and biochemical makeup can only be speculative. Dietary restriction of galactose is recommended for all individuals proven to be deficient in this enzyme, whether homozygous or heterozygous.
mesh_terms: D000328:Adult; D002386:Cataract / Q000209:etiology / Q000473:pathology; D002387:Cataract Extraction; D005451:Fluorescein Angiography; D005686:Galactokinase / Q000097:blood / Q000172:deficiency*; D006579:Heterozygote; D006801:Humans; D008266:Macula Lutea / Q000378:metabolism* / Q000473:pathology; D008297:Male
chemical_list: D005686:Galactokinase