Because LAL deficiency is inherited, each sibling of an affected individual has a 25% chance of having pathological mutations in LAL genes from both their mother and their father, a 50% chance of having a pathological mutation in only one gene, and a 25% chance of having no pathological mutations. Genetic testing for family members and genetic prenatal diagnosis of pregnancies for women who are at increased risk are possible if family members carrying pathological mutations have been identified.
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