Skip to main content

Table 1 Demographic, clinical, biochemical and genetic data at the diagnosis

From: Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

  Sex Age at symptoms onset (years) Signs and symptoms Age at diagnosis (years) LIPA pathogenic variants Enzyme activity ALT (UI/L) Cholesterol (mmol/L) TG (mmol/L)
1 F 7.5 Severe hepato-splenomegaly 9.2 c.894G > A //c.652 C > T 2,5a 134 7.26 1.36
2 F 9.9 Mild hepato-splenomegaly 9.9 c.894G > A //c.652 C > T 1,6a 137 7.83 2.28
3 M 18 Mild hepato-splenomegaly 20.5 c.894G > A//c.894G > A 0.03b 115 7.70 1.20
  1. aLAL activity in blood lymphocytes (Reference values: 56.1 ± 7.6 nmol/mg protein/h);b LAL activity in Dried Blood Spot; (Reference values: 0.8–3.0 nmol/punch/h); ALT reference 10–45 U/L, Cholesterol reference value below 5.17 mmol/L, Triglycerides reference value 0.3–1.7