Wydanie 1/2005
Jaskra w przebiegu chorób metabolicznych uwarunkowanych genetycznie
Glaucoma and Inborn Metabolic Diseaeses
Mirosława Grałek
Klinika Okulistyki Instytutu ? Pomnika ?Centrum Zdrowia Dziecka? Kierownik: prof. dr hab. med. Mirosława Grałek
Summary: Inborn errors of metabolic develop as a result of genetically encoded, inborn errors in the metabolism of aminoacids, proiteins, carbohydrates, lipids and connective tissue disorders. Among multiorgan, varying symptoms, ocular changes are very common. The paper describes metabolic disease in which there are symptoms of glaucoma. This group includes mucopolisaccharidoses, disturbances of aminoacids, (hyperaminoaciduria with Lowe syndrome, homocystinuria), connective tissue (Marfan syndrome) and carbochydrates.
Keywords: inborn errors of metabolism, eye symptoms, glaucoma, hyperaminoaciduria, Lowe syndrome, homocystinuria, Marfan syndrome, Marchesani syndrome, mucopolisaccharidoses.