| A case of homocystinuria. |
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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 |
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박강서1, 최규선1, 장형택1, 이홍철1, 이춘희2 |
1전주 예수병원 소아과
2전주 예수병원 임상병리과 |
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Received: 28 August 1990 • Accepted: 29 October 1990 |
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| Abstract |
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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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