SNP Shot: Genomic Insights

Hyperlysinemia is a genetic disorder resulting in higher-than-normal amounts of lysine in the bloodstream. Lysine is an amino acid, a fundamental component of proteins. This condition arises from a deficiency in the enzyme responsible for lysine breakdown. In the majority of cases, hyperlysinemia presents without any noticeable symptoms, and individuals are often unaware of their elevated lysine levels. In rare instances, it has been associated with intellectual disability or behavioral issues, although a direct causal link remains unconfirmed.

Inheritance:

Hyperlysinemia follows an autosomal recessive inheritance pattern. This means that an individual must inherit two mutated copies of the responsible gene, one from each parent, to develop the condition. The parents, carrying only one mutated copy each, are usually unaffected and do not exhibit any symptoms.