|
NR. 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. |
| |
|
| Key words: |
inborn errors of
metabolism, eye symptoms, glaucoma, hyperaminoaciduria,
Lowe syndrome, homocystinuria, Marfan syndrome,
Marchesani syndrome, mucopolisaccharidoses. |
|
|
|
|
|
|
|
|
