H00148 | |
H number | H00148 |
Name | Lysosomal acid lipase deficiency |
Description | Lysosomal acid lipase (LAL) deficiency causes autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman disease is the infantile form presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL deficiency. |
Category | Inherited metabolic disorder, Lysosomal disease |
Network | - |
Gene | LIPA [HSA:3988] [KO:K01052] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Sebelipase alfa [DR:D10377] |
Comment | - |
Other DBs | ICD-11: 5C56.0Y ICD-10: E75.5 MeSH: D015223 OMIM: 278000 |
Reference | PMID:9705237 AUTHORS Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA TITLE Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. JOURNAL Mol Genet Metab 64:126-34 (1998) DOI:10.1006/mgme.1998.2707 PMID:9367797 AUTHORS Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T TITLE Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. JOURNAL Biochem Mol Med 62:42-9 (1997) DOI:10.1006/bmme.1997.2626 PMID:18776925 AUTHORS Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ TITLE Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. JOURNAL Bone Marrow Transplant 43:21-7 (2009) DOI:10.1038/bmt.2008.273 |