Thelansis

 Methylmalonic acidemia (MMA) is a term used to describe a set of inherited disorders where the body's ability to process specific proteins and lipids (fats) is impaired. Individuals with MMA cannot properly metabolize a substance called methylmalonyl-coenzyme A, accumulating methylmalonic acid in their bodies. Additionally, methylmalonic acid levels can rise in individuals who lack vitamin B12 for reasons unrelated to genetics. This condition stems from mutations in various genes. It can be categorized into two groups: 1) those with isolated MMA, characterized by elevated methylmalonic acid levels only, and 2) individuals with combined defects who also exhibit heightened homocysteine levels. Mutations in the MMAA, MMAB, and MUT genes are responsible for isolated methylmalonic acidemia, with approximately half of cases involving MUT gene mutations. The MUT gene provides instructions for producing an enzyme called methylmalonyl CoA mutase, crucial in breaking down several amino acid...