Jayden Jackson, Justin Farajzadeh, Robert Turner, Kevin Yukutake, Eric Baghdasaryan, Emily St Denis, Tigran Barseghyan, Pamela Herrera, Sajo Begaj, Marvin Pietruszka, Yadira Valles-Ayoub
Background: The LIPA gene encodes for lysosomal acid lipase (LAL), which catalyzes the hydrolysis of cholesterol esters and triglycerides. Variations in the LIPA gene impair LAL activity, predisposing patients to a rare metabolic disorder called LAL deficiency (LAL-D). The lack of functioning LAL promotes lipid accumulation and subsequent dyslipidemia, which can increase the likelihood of complications in both infants and adults. Although the worldwide prevalence is 1:500,000 births, the frequency in Mizrahi Jewish populations is projected to be as high as 1 in every 4200 births (Valles-Ayoub et al...
October 2023: Genetic Testing and Molecular Biomarkers