All issues > Volume 34(4); 1991

Original Article

J Korean Pediatr Soc. 1991;34(4):566-572. Published online April 30, 1991.

A case of homocystinuria.

Kang Seo Park¹, Kyu Sun Choi¹, Young Tack Jang¹, Hong Cheul Lee¹, Chun Hee Lee²

¹Department of Pediatrics, Presbyterian Medical Center, Chon Ju, Korea
²Department of Clinical Pathology, Presbyterian Medical Center, Chon Ju, Korea

Received: August 28, 1990;  Accepted: October 29, 1990.

Abstract

Homocystinuria caused by cystathionine B-synthetase deficiency is characterized biochemically by increased concentration of homocystine and methionine, decreased concentration of cystine in plasma and urine. The manifestation of this rare disorder include skeletal abnormalities, a high incidence of thromboembolism, ectopia lentis, and a high frequency of mental retardation. We experienced a case of homocystinuria in a 10-year-old female patient who had mental retarda- tion, ectopia lentis, corneal opacity, Marfanoid features. We reported a case of homocystinuria with a brief review of related literatures.

Keywords :Homocystinuria