SNP Shot: Genomic Insights

Combined malonic and methylmalonic aciduria (CMAMMA) is a disorder where the body accumulates excessive amounts of malonic acid and methylmalonic acid. A key characteristic is that urine contains more methylmalonic acid than malonic acid, although both are present at elevated levels.

Symptoms of CMAMMA can appear during childhood. Some children experience ketoacidosis, a dangerous acidification of the blood that can harm tissues and organs. Additional symptoms may include dystonia (involuntary muscle contractions), hypotonia (weak muscles), delayed development, failure to thrive (poor growth), hypoglycemia (low blood sugar), and even coma. Some children may also have microcephaly (abnormally small head).

In other cases, individuals with CMAMMA remain asymptomatic until adulthood. These individuals often develop neurological issues such as seizures, memory loss, cognitive decline, or psychiatric disorders.

Inheritance:

CMAMMA follows an autosomal recessive inheritance pattern. This means that both copies of the relevant gene must be mutated for the condition to manifest. Individuals with only one mutated copy are carriers; they typically don't exhibit symptoms but can pass the mutated gene to their children.