Methylmalonic acidemia | 合法藥品大搜索
Methylmalonicacidemia,alsocalledmethylmalonicaciduria,isanautosomalrecessivemetabolicdisorderthatdisruptsnormalaminoacidmetabolism.
Medical condition
Methylmalonic acidemia, also called methylmalonic aciduria,[note 1] is an autosomal recessive[1] metabolic disorder that disrupts normal amino acid metabolism.[2] It is a classical type of organic acidemia.[3] The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.[4]
Methylmalonic acidemia stems from several genotypes,[5] all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated. It is estimated that this disorder has a frequency of 1 in 48,000 births, though the high mortality rate in diagnosed cases make exact determination difficult.[4] Methylmalonic acidemias are found with an equal frequenc...
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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