SNP Shot: Genomic Insights

Arginine:glycine amidinotransferase deficiency is a genetic condition mainly impacting the brain. Individuals with this deficiency typically experience intellectual disability, ranging from mild to moderate, and exhibit delays in speech development. Some may also display autistic-like behaviors, impacting their ability to communicate and interact socially. Seizures can occur, particularly during periods of fever.

Children with arginine:glycine amidinotransferase deficiency might experience growth issues, not gaining weight or growing at a normal pace (failure to thrive). They may also demonstrate delays in motor skill development, such as learning to sit and walk. Low muscle tone and easy fatigue are also common characteristics in affected individuals.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that for an individual to be affected, both copies of the relevant gene in their cells must carry mutations. The parents of an affected person each carry one copy of the mutated gene; however, they usually do not exhibit any signs or symptoms of the deficiency themselves.