SNP Shot: Genomic Insights

Glutaric acidemia type II (GA II) is a genetic condition that disrupts the body's ability to process proteins and fats for energy production. This breakdown impairment leads to a buildup of partially processed proteins and fats, causing an excessive level of acidity in the blood and tissues, a condition known as metabolic acidosis.

GA II typically manifests in infancy or early childhood with sudden metabolic crises. During these episodes, metabolic acidosis and low blood sugar (hypoglycemia) result in symptoms such as weakness, behavioral changes (poor feeding, decreased activity), and vomiting. These crises can be life-threatening and are often triggered by common childhood illnesses or other stressors.

In the most severe forms of GA II, individuals may be born with physical abnormalities. These can include brain malformations, an enlarged liver (hepatomegaly), an enlarged and weakened heart (dilated cardiomyopathy), kidney malformations like fluid-filled cysts, distinctive facial features, and genital abnormalities. A characteristic odor, similar to sweaty feet, may also be present.

Some individuals with GA II experience milder symptoms that emerge later in childhood or even in adulthood. In the least severe cases, muscle weakness that develops during adulthood might be the initial indication of the disorder.

Inheritance:

GA II is inherited in an autosomal recessive manner. This means that for a person to be affected, they must inherit a mutated copy of the responsible gene from both parents. The parents, each carrying only one copy of the mutated gene, are typically unaffected and do not exhibit symptoms of the condition.