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A case of homocystinuria.

Journal of the Korean Pediatric Society 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
Homocystine 뇨증 1례
박강서1, 최규선1, 장형택1, 이홍철1, 이춘희2
1전주 예수병원 소아과
2전주 예수병원 임상병리과
Received: 28 August 1990   • Accepted: 29 October 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.
Key Words: Homocystinuria


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