Methylmalonic acidemia | 合法藥品大搜索
Methylmalonicacidemiaisaninheriteddisorderinwhichthebodyisunabletoprocesscertainproteinsandfats(lipids)properly.
Variants (also called mutations) in the MMUT[1], MMAA[2], MMAB[3], MMADHC[4], and MCEE[5] genes cause methylmalonic acidemia. The long-term effects of methylmalonic acidemia depend on which gene is altered and the severity of the variant.
About 60 percent of individuals with methylmalonic acidemia have variants in the MMUT gene. This gene provides instructions for making an enzyme called methylmalonyl-CoA mutase. This enzyme works with vitamin B12 (also called cobalamin) to break down several protein building blocks (amino acids[6]), certain lipids, and cholesterol. Variants in the MMUT gene alter the enzymes structure or reduce the amount of the enzyme, which prevents these molecules from being broken down properly. As a result, a substance called methylmalonic acid and other potentially toxic compounds can accumulate in the bodys organs and tissues, causing the signs and symptoms of ...
Methylmalonic acidemia | 合法藥品大搜索
Methylmalonic acidemia | 合法藥品大搜索
Methylmalonic acidemia | 合法藥品大搜索
Methylmalonic acidemia | 合法藥品大搜索
About Methylmalonic Acidemia | 合法藥品大搜索
Brief Overview of Methylmalonic Acidemia | 合法藥品大搜索
Methylmalonic acidemia | 合法藥品大搜索
Isolated Methylmalonic Acidemia | 合法藥品大搜索
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