A Case of Homocystinuria with Ectopia Lentis.
- Author:
Dug Youhng CHUNG
1
;
Young Tae CHUNG
Author Information
1. Department of Ophthalmology, Presbyterian Medical Center, Chonju, Korea.
- Publication Type:Case Report
- Keywords:
Autosomal recessive disorder;
Cystathionine B-synthase deficiency;
Ectopia lentis;
Homocystinuria
- MeSH:
Brain;
Child;
Cystathionine;
Cystine;
Ectopia Lentis*;
Female;
Homocystine;
Homocystinuria*;
Humans;
Incidence;
Intellectual Disability;
Liver;
Metabolism;
Methionine;
Plasma;
Thromboembolism
- From:Journal of the Korean Ophthalmological Society
1991;32(1):110-115
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Homocystinuria is an inborn error on the pathway of the methionine metabolism. It is mainly caused by a cystathionine B-synthase deficiency in the brain or liver. Homocystinuria is biochemically characterized by: 1) an increase of the homocystine and methionine concentration in the plasma; and 2) a decrease of the cystine with an increased excretion of homocystine in the urine. The clinical manifestations of this autosomal recessive disorder include: ectopoia lentis, skeletal abnormalities, high incidence of thromboembolism and high frequency of mental retardation. We have been experiencing a case of a 10 year old female patient who has suffered from homocystinuria. She has undergone mental retardation, poor vision caused by ocular complications and Marfanoid feautures.
