SNP Shot: Genomic Insights

Argininosuccinic aciduria (ASA) is a genetic condition where ammonia builds up in the blood. Ammonia is a byproduct of protein breakdown and is harmful to the body, particularly the nervous system, when levels are too high.

ASA typically presents itself in newborns within the first few days of life. Affected infants may exhibit symptoms such as lethargy, poor feeding, and difficulty regulating breathing or body temperature. Seizures, unusual movements, or even coma can also occur. Long-term complications of ASA can include developmental delays and intellectual disability. Furthermore, progressive liver damage, high blood pressure (hypertension), skin problems, and brittle hair are sometimes observed.

In some cases, individuals inherit a milder form of ASA. These individuals might only experience elevated ammonia levels during times of illness or stress. Others may have mild intellectual or learning disabilities without showing any signs of increased ammonia in their blood.

Inheritance:

ASA follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. Parents who each carry one copy of the mutated gene are usually unaffected and do not exhibit any symptoms.