We hypothesised that a signature of LAL deficiency could be identified (comprising detection of the increases in hepatic CE and TG content), and that the reduction in hepatic CE and TG content, following enzyme replacement therapy with sebelipase alfa (Synageva BioPharma Corp., Lexington, MA, USA), could be observed with these methods. This evidence concerns the gene LIPA and hyperinsulinemic hypoglycemia, familial, 4.