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Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. A large number have ocular manifestations, some of which are essential to the specific diagnoses.
The carbohydrate syndromes include galactosemia, with its characteristic cataracts; glycogen storage, with surprisingly few ocular manifestations; and glucose-6-phosphate dehydrogenase deficiency, with the questionable occurrence of cataracts and optic atrophy.
The errors of lipid metabolism consist chiefly of the sphingolipidoses, of which the most familiar are Tay-Sachs disease (and its variants), Niemann-Pick disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, and Fabry disease. In all but the last two, the body stores the unmetabolizable lipid in the ganglion cells of the retina; most of the disorders culminate in optic atrophy. Krabbe disease is characterized by storage of lipid in cells of the optic nerve, with consequent optic atrophy. Fabry disease is characterized by accumulation of lipid in endothelial and epithelial
Cogan DG. Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism. Arch Ophthalmol. 1976;94(4):693. doi:10.1001/archopht.1976.03910030347030
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