LAL deficiency can be treated with sebelipase alfa is a recombinant form of LAL that was approved in 2015 in the US and EU. The disease of LAL affects < 0.2 in 10,000 people in the EU. According to an estimate by a Barclays analyst, the drug will be priced at about US$375,000 per year. It is administered once a week via intraveneous infusion in people with rapidly progressing disease in the first six months of life. In people with less aggressive disease, it is given every other week. Before the drug was approved, treatment of infants was mainly focused on reducing specific complications and was provided in specialized centers. Specific interventions for infants included changing from breast or normal bottle formula to a specialized low fat formula, intravenous feeding, antibiotics for infections, and steroid replacement therapy because of concerns about adrenal function. Statins were used in people with LAL-D prior to the approval of sebelipase alfa; they helped control cholesterol but did not appear to slow liver damage; liver transplantation was necessary in most patients.
Lysosomal acid lipase deficiency
Acyl-CoA oxidase deficiency
2,4 Dienoyl-CoA reductase deficiency
Glycerol kinase deficiency
Mitochondrial trifunctional protein deficiency
Lipoprotein lipase deficiency
Lecithin cholesterol acyltransferase deficiency
Holocarboxylase synthetase deficiency