KEGG   DISEASE: Lysosomal acid lipase deficiency
Entry
H00148                      Disease                                
Name
Lysosomal acid lipase deficiency
  Subgroup
Wolman disease
Cholesterol ester storage disease (CESD)
  Supergrp
Lysosomal storage disease [DS:H01425]
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
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00148  Lysosomal acid lipase deficiency
  Lysosomal storage diseases
   H00148  Lysosomal acid lipase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00148  Lysosomal acid lipase deficiency
Related
pathway
hsa04142  Lysosome
hsa04979  Cholesterol metabolism
hsa00100  Steroid biosynthesis
Gene
LIPA [HSA:3988] [KO:K01052]
Drug
Sebelipase alfa [DR:D10377]
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
Reference
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
Reference
  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
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