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Original Article

Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years

Se Jung Oh, Yong Hee Hong, Yong Wha Lee, Dong Hwan Lee

Clin Exp Pediatr. 2010;53(3):329-334. Published online March 15, 2010

Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal...

A case of homocystinuria.

Kang Seo Park, Kyu Sun Choi, Young Tack Jang, Hong Cheul Lee, Chun Hee Lee

Clin Exp Pediatr. 1991;34(4):566-572. Published online April 30, 1991

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,...

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