Molecular analysis of 15 homozygous LAL-D patients from greece using DBS screening.

Aim: Lysosomal acid lipase (LAL), encoded by the LIPA gene, catalyzes hydrolysis of cholesteryl esters and triglycerides. Mild splicing-junction mutation c.894G>A is considered as the most frequent mutation (about 60% of all defects in European populations). The aim of this study was to define the spectrum of LIPA mutations in Greek population.