Infants with LAL deficiencies typically show signs of disease in the first weeks of life and if untreated, die within 6–12 months due to multi-organ failure. Older children or adults with LAL-D may remain undiagnosed or be misdiagnosed until they die early from a heart attack or stroke or die suddenly of liver failure. The first enzyme replacement therapy was approved in 2015. In those clinical trials nine infants were followed for one year; 6 of them lived beyond one year. Older children and adults were followed for 36 weeks.
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