Large-scale screening of lipase acid deficiency in at risk population

Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as liver, spleen, and cardiovascular system. A wide range severity associated LALD including severe very antenatal/neonatal/infantile phenotype named Wolman disease late-onset form ester storage (CESD). This study aimed investigate cohort at-risk patients (4174) presenting biological signs consistent using assessment LAL activity on dried blood spots. was lower than 0.05 nmol/punch/L (cut-off: 0.12) 19 13 CESD 6 Wolman. Molecular has been conducted 17 succeeded identifying 34 mutated alleles. Fourteen unique variants have characterized, 7 which novel. allowed identify series expanded molecular spectrum knowledge LALD. Besides, new screening criteria grid based clinical/biological data from our literature proposed order enhance diagnosis rate at risk populations.