What type of genetic inheritance is associated with Methylmalonic Acidemia?

Methylmalonic Acidemia (MMA) is primarily inherited in an autosomal recessive manner. This means that for an individual to be affected by the condition, they must inherit two copies of the mutated gene, one from each parent. Each parent can be a carrier (having one mutated copy and one normal copy) without showing symptoms of the disorder themselves. The autosomal recessive pattern of inheritance is common in metabolic disorders like MMA, where the enzyme responsible for the metabolism of certain amino acids is deficient, leading to the accumulation of harmful substances in the body. This explains why both parents need to pass on the mutated gene for the offspring to express the phenotype associated with MMA. Understanding this inheritance pattern is crucial for genetic counseling, encouraging carrier testing, and assessing the risks for future pregnancies in affected families.