SNP Shot: Genomic Insights

Methylmalonic acidemia (MMA) refers to a collection of genetic conditions that disrupt the body's ability to process proteins and fats (lipids) efficiently. Symptoms of MMA, ranging in severity from mild to life-threatening, typically manifest in early infancy. Common signs include vomiting, dehydration, low muscle tone (hypotonia), delayed development, extreme fatigue (lethargy), an enlarged liver (hepatomegaly), and inadequate weight gain and growth (failure to thrive). Over time, individuals with MMA may experience difficulties with feeding, intellectual disabilities, motor impairments, chronic kidney problems, and inflammation of the pancreas (pancreatitis). A frequent occurrence is metabolic acidosis, characterized by an overabundance of acid in the bloodstream, potentially leading to serious medical issues. In the absence of treatment, MMA can progress to coma and, in some instances, death.

Inheritance:

MMA is inherited in an autosomal recessive manner. This means that for an individual to develop the condition, they must inherit a mutated copy of either the MMUT, MMAA, MMAB, MMADHC, or MCEE gene from both parents. Each parent, while carrying one copy of the altered gene, usually does not exhibit any signs or symptoms of the disorder themselves.