TABLE 2.

LAL activity in patients with LIPA sequencing test results

LIPA sequencing	LAL activity (pmol/min/mg protein) Average ± margin of error (CI 95%)
Patients with biallelic variants in LIPA (n = 9)	4.02 ± 2.02
Patients with normal LIPA sequence analysis (n = 36)	13.886 ± 1.49

All LIPA coding exons were sequenced in 49 individuals with reduced or deficient LAL activity. Of these cases, seven patients were homozygous or compound heterozygous for pathogenic mutations, four patients were heterozygous for one pathogenic mutation, and 36 showed negative sequencing results. LAL activity from patients with biallelic pathogenic mutations was significant reduced vs patients with negative results (P < 0.001)