메틸말론산혈증
상염색체 열성
MMUT, MMAA, MMAB, MCEE 및 관련 코발라민 처리 유전자의 변이로 발생하며, 구토, 수유 곤란, 대사 위기, 발달 문제 및 신장 질환을 일으킬 수 있습니다.
진단이 달라지는 점
이를 알면 전문가의 식이 관리, 카르니틴, 반응성 유형의 경우 비타민 B12 치료와 응급 대응 계획을 세울 수 있으며, 이는 대사 위기의 위험을 줄여 줍니다.
다른 명칭
methylmalonic acidemia, cblA type; methylmalonic acidemia, cblB type; methylmalonic aciduria; methylmalonic aciduria cblB type; methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; methylmalonic aciduria type cblA; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type; METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency; METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A; METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B
관련 하위 유형 18개 포함 ↓하위 유형 숨기기 ↑
- combined malonic and methylmalonic acidemia
- isolated methylmalonic aciduria cblD type
- methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- methylmalonic acidemia due to transcobalamin receptor defect
- methylmalonic acidemia with homocystinuria, type cblJ
- methylmalonic acidemia with homocystinuria, type cblX
- methylmalonic aciduria and homocystinuria
- methylmalonic aciduria and homocystinuria type cblC
- methylmalonic aciduria and homocystinuria type cblD
- methylmalonic aciduria and homocystinuria type cblF
- methylmalonic aciduria and homocystinuria, cb1L type
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- methylmalonic aciduria, cblA type
- methylmalonic aciduria, cblB type
- vitamin B12-responsive methylmalonic acidemia
- vitamin B12-responsive methylmalonic acidemia, type cblDv2
- vitamin B12-unresponsive methylmalonic acidemia type mut-
- vitamin B12-unresponsive methylmalonic acidemia type mut0
