| methylmalonicacidemia |
1. an autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria, and hyperammonemia, and presenting in infancy as failure to thrive, persistent vomiting and dehydration, respiratory distress, and hypotonia. It results from any of several defects that cause deficiency of methylmalonyl-CoA mutase (q.v.) activity, including defects in the apoenzyme, in the biosynthesis of adenosylcobalamin (see cob(l)alamin adenosyltransferase and cobalamin reductase), in the transport of cobalamin, or in the pathway of biosynthesis common to both cobalamin-containing coenzymes; the last two defects also cause homocystinuria due to deficiency of 5-methyltetrahydrofolate–homocysteine S-methyltransferase (q.v.). Called also methylmalonicaciduria. 2. excess of methylmalonic acid in the blood.
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 |
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