title: [Metabolic disorders and corneal changes (author's transl)].
abstract: The following inborn errors of metabolism may show corneal changes: A. Inborn errors of metabolism affecting the corneal epithelium: (1) familial dysautonomia, (2) tyrosinaemia type II, (3) Fabry's glycolipidosis. B. Inborn errors of metabolism affecting the corneal stroma: I. Localized amyloidosis (lattice dystrophy of the cornea), II. Defects in carbohydrate metabolism: (1) localized mucopolysaccharidosis (macular dystrophy of the cornea), (2) systemic mucopolysaccharides, (3) glycogen storage disease. III. Defects in lipid metabolism: (1) localized from (Schnyder's crystalline dystrophy), (2) systemic forms (hyperlipoproteinaemia, hypolipoproteinaemia, Lecithin-cholesterol acyl transferase deficiency, Wolman's disease, Gaucher's disease). IV. Combined defects in lipid and carbohydrate metabolism (mucolipidoses). V. Other inherited metabolic disorders: (1) aminoacidopathies (cystinosis, Wilson's disease, ochronosis, Chediak-Higashi syndrome), (2) hemochromatosis.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D000686:Amyloidosis / Q000175:diagnosis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D003316:Corneal Diseases / Q000175:diagnosis* / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis; D003318:Corneal Opacity / Q000175:diagnosis; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics
vernacular_title: Stoffwechselstörungen und Hornhautveränderungen.