SNP Shot: Genomic Insights

Isovaleric acidemia (IVA) is a rare genetic condition where the body struggles to process leucine, a specific amino acid (a building block of protein). It falls under the category of organic acid disorders, leading to an accumulation of organic acids in the body. This buildup can be harmful, causing toxic levels in the blood (organic acidemia), urine (organic aciduria), and tissues, potentially leading to severe health issues.

Typically, the body breaks down dietary proteins into amino acids, which are then further processed for energy, growth, and development. However, individuals with IVA lack sufficient levels of an enzyme necessary for breaking down leucine properly.

The severity of health problems associated with IVA varies significantly. In severe cases, symptoms emerge shortly after birth, including poor feeding, vomiting, seizures, and lethargy. These symptoms can worsen, leading to seizures, coma, and potentially death. A telltale sign of IVA is a distinctive "sweaty feet" odor during acute illness, resulting from the buildup of isovaleric acid in affected individuals.

In other instances, the symptoms of IVA may not appear until childhood and can be intermittent. Affected children may experience failure to thrive (poor weight gain and growth) and developmental delays. Episodes of more serious health problems in these children can be triggered by fasting, infections, or a diet high in protein.

Notably, some individuals with the genetic mutations responsible for IVA remain asymptomatic, meaning they never exhibit any signs or symptoms of the condition.

Inheritance:

IVA follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The parents, who each carry one copy of the mutated gene, are typically carriers and do not display symptoms of IVA themselves.