SNP Shot: Genomic Insights

Beta-ureidopropionase deficiency is a condition characterized by elevated levels of N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine in the urine. Some individuals with this deficiency also experience a range of neurological issues, from mild to severe.

Symptoms of beta-ureidopropionase deficiency can include low muscle tone (hypotonia), seizures, impaired speech, delayed development, intellectual disability, and autism-like behaviors affecting communication and social skills. Microcephaly, an abnormally small head size, may be present in some cases, as well as brain abnormalities detectable through medical imaging. Optic nerve deterioration, which can disrupt the transmission of visual information to the brain, may also result in vision loss.

Notably, some individuals with beta-ureidopropionase deficiency exhibit no neurological symptoms, and the condition is only identifiable through laboratory analysis.

Inheritance:

Beta-ureidopropionase deficiency is inherited in an autosomal recessive manner. This means that to develop the condition, an individual must inherit a mutated copy of the relevant gene from each parent. The parents, who each carry only one copy of the mutated gene, are usually asymptomatic.