Abstract

Lysosomal Acid Lipase (LAL) deficiency is a rare lysosomal storage disorder characterized by the accumulation of cholesteryl esters and triglycerides in various tissues. Early diagnosis is crucial for effective management and treatment. In this study, we investigated the feasibility of identifying LAL deficiency through enzyme activity analysis in dried blood spots. Utilizing dried blood spots collected from patients suspected of LAL deficiency, we measured enzyme activity levels using a validated assay method. Our findings demonstrate the potential utility of dried blood spots for detecting LAL deficiency, offering a convenient and non-invasive approach for screening and early intervention. Further validation and optimization of this method could lead to improved diagnostic strategies for this debilitating condition.