| 3-methylglutaconicaciduria |
an aminoacidopathy characterized by excessive urinary excretion of 3-methylglutaconic acid and occurring in two forms. A mild form caused by deficiency of methylglutaconyl-CoA hydratase is characterized by speech retardation; a more severe form, of unknown etiology, is characterized by urinary excretion also of 3-methylglutaric acid and by progressive neurologic deterioration with hypotonia and optic atrophy.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|