대한유전성대사질환학회지 (Journal of The Korean Society of Inherited Metabolic disease)
- 제13권2호
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- Pages.98-103
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- 2013
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- 2287-4712(pISSN)
단독성 고메티오닌혈증 환아들의 임상적 특성과 유전자 분석
Clinical Findings and Genetic Analysis of Isolated Hypermethioninemia Patients in Korea
- 유상수 (순천향대학교 의과대학 소아과학교실) ;
- 이민희 (순천향대학교 의과대학 소아과학교실) ;
- 이정호 (순천향대학교 의과대학 소아과학교실) ;
- 이동환 (순천향대학교 의과대학 소아과학교실)
- Yoo, Sang Soo (Department of Pediatrics, Soonchunhyang University Hospital) ;
- Rhee, Min Hee (Department of Pediatrics, Soonchunhyang University Hospital) ;
- Lee, Jeongho (Department of Pediatrics, Soonchunhyang University Hospital) ;
- Lee, Dong Hwan (Department of Pediatrics, Soonchunhyang University Hospital)
- 발행 : 2013.12.31
초록
Purpose: MAT-I/III deficiency by MAT1A gene mutation causes isolated hypermethioninemia, which is considered to be a clinically benign disease. But in some patients, mental retardation, developmental delay, myelination disorder may be shown. This study was performed to find out the clinical manifestations and genetic characteristics of patients with isolated hypermethioninemia. Methods: Clinical, biochemical and genetic analysis were done to 10 patients with isolated hypermethioninemia who were referred to department of pediatrics, Soonchunhyang University Hospital from March 1999 to March 2012. Results: At first visit, all patients' mean plasma methionine level was 5.5 mg/dL (2.1-14.6) and there were no increase of amino acid levels including homocystine in all patients. Serum homocysteine level was evaluated in seven patients who visited after year 2003, and ranged from 4.96 to