SNP Shot: Genomic Insights

Guanidinoacetate methyltransferase deficiency is a genetic condition that mainly impacts the brain and muscles. If left untreated, this disorder leads to significant neurological issues, including intellectual disability, severely limited speech (often only a few words), and frequent seizures (epilepsy). Individuals with this deficiency may also display autistic-like behaviors that hinder communication and social interaction, or engage in self-harming behaviors like head-banging. Involuntary movements, known as extrapyramidal dysfunction, such as tremors or facial tics, can also occur.

Individuals with guanidinoacetate methyltransferase deficiency may experience low muscle tone and delays in developing motor skills like sitting or walking. In more serious cases, they may regress and lose skills they previously had, such as head control or the ability to sit without support.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that to develop the condition, an individual must inherit a mutated copy of the responsible gene from both parents. The parents themselves typically carry only one copy of the mutated gene and do not show any signs or symptoms of the disorder.