Methylmalonic acidemias
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Methylmalonic acidemias, also called methylmalonic acidurias,[note 1] are a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats.[1] This leads to a buildup of a toxic level of methylmalonic acid in body liquids and tissues. Due to the disturbed branched-chain amino acids (BCAA) metabolism, they are among the classical organic acidemias.[2]
Methylmalonic acidemias | |
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Other names | Methylmalonic acidurias, MMAs |
Methylmalonic acid | |
Specialty | Endocrinology |
Methylmalonic acidemias have varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder.[3]
The first symptoms may begin as early as the first day of life or as late as adulthood.[4] Symptoms can range from mild to life-threatening.[1] Some forms can result in death if undiagnosed or left untreated.
Methylmalonic acidemias are found with an equal frequency across ethnic boundaries.[5]