SNP Shot: Genomic Insights

Aminoacylase-1 deficiency is a genetic condition that mainly impacts the nervous system, with varying symptoms and severity. A common sign is psychomotor delay, affecting both cognitive and motor skill development. Other potential features include movement difficulties, low muscle tone (hypotonia), mild intellectual disability, and seizures. Notably, some individuals with this deficiency might show no symptoms at all. A diagnostic marker is elevated levels of N-acetylated amino acids (modified protein building blocks) in the urine.

Inheritance:

Aminoacylase-1 deficiency follows an autosomal recessive inheritance pattern. This means an individual must inherit two copies of the faulty gene – one from each parent – to develop the condition. The parents, each carrying one copy of the mutated gene, are typically healthy and considered carriers.