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Lysosomal acid lipase deficiency

MedGen UID:
423619
Concept ID:
C2936797
Disease or Syndrome
Synonym: Acid cholesteryl ester hydrolase deficiency, type 2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related gene: LIPA
 
Monarch Initiative: MONDO:0800449
OMIM® Phenotypic series: PS278000
Orphanet: ORPHA275761

Disease characteristics

Excerpted from the GeneReview: Lysosomal Acid Lipase Deficiency
The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations. [from GeneReviews]
Authors:
Erin P Hoffman  |  Marci L Barr  |  Monica A Giovanni, et. al.   view full author information

Professional guidelines

PubMed

Mashima R, Takada S
Int J Mol Sci 2022 Dec 8;23(24) doi: 10.3390/ijms232415549. PMID: 36555187Free PMC Article
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Berberich AJ, Hegele RA
Pathology 2019 Feb;51(2):184-192. Epub 2018 Dec 14 doi: 10.1016/j.pathol.2018.10.014. PMID: 30558903

Suggested Reading

PubMed

Shirley M
Drugs 2015 Nov;75(16):1935-40. doi: 10.1007/s40265-015-0479-6. PMID: 26452566

Recent clinical studies

Etiology

Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Vázquez-Frias R, García-Ortiz JE, Valencia-Mayoral PF, Castro-Narro GE, Medina-Bravo PG, Santillán-Hernández Y, Flores-Calderón J, Mehta R, Arellano-Valdés CA, Carbajal-Rodríguez L, Navarrete-Martínez JI, Urbán-Reyes ML, Valadez-Reyes MT, Zárate-Mondragón F, Consuelo-Sánchez A
Rev Gastroenterol Mex (Engl Ed) 2018 Jan-Mar;83(1):51-61. Epub 2017 Dec 27 doi: 10.1016/j.rgmx.2017.08.001. PMID: 29287906
Guardamagna O, Guaraldi F
Curr Pediatr Rev 2017;13(4):232-242. doi: 10.2174/1573396314666180111144514. PMID: 29332587
A-Kader HH
Expert Rev Gastroenterol Hepatol 2017 Oct;11(10):911-924. Epub 2017 Jun 26 doi: 10.1080/17474124.2017.1343144. PMID: 28612634
Maciejko JJ
Am J Cardiovasc Drugs 2017 Jun;17(3):217-231. doi: 10.1007/s40256-017-0216-5. PMID: 28197978

Diagnosis

Mashima R, Takada S
Int J Mol Sci 2022 Dec 8;23(24) doi: 10.3390/ijms232415549. PMID: 36555187Free PMC Article
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Pastores GM, Hughes DA
Drug Des Devel Ther 2020;14:591-601. Epub 2020 Feb 11 doi: 10.2147/DDDT.S149264. PMID: 32103901Free PMC Article
Vázquez-Frias R, García-Ortiz JE, Valencia-Mayoral PF, Castro-Narro GE, Medina-Bravo PG, Santillán-Hernández Y, Flores-Calderón J, Mehta R, Arellano-Valdés CA, Carbajal-Rodríguez L, Navarrete-Martínez JI, Urbán-Reyes ML, Valadez-Reyes MT, Zárate-Mondragón F, Consuelo-Sánchez A
Rev Gastroenterol Mex (Engl Ed) 2018 Jan-Mar;83(1):51-61. Epub 2017 Dec 27 doi: 10.1016/j.rgmx.2017.08.001. PMID: 29287906
Camarena C, Aldamiz-Echevarria LJ, Polo B, Barba Romero MA, García I, Cebolla JJ, Ros E
Med Clin (Barc) 2017 May 10;148(9):429.e1-429.e10. Epub 2017 Mar 9 doi: 10.1016/j.medcli.2016.12.044. PMID: 28285817

Therapy

Korbelius M, Kuentzel KB, Bradić I, Vujić N, Kratky D
Trends Mol Med 2023 Jun;29(6):425-438. Epub 2023 Apr 5 doi: 10.1016/j.molmed.2023.03.001. PMID: 37028992Free PMC Article
Witeck CDR, Schmitz AC, de Oliveira JMD, Porporatti AL, De Luca Canto G, Pires MMS
J Pediatr (Rio J) 2022 Jan-Feb;98(1):4-14. Epub 2021 May 6 doi: 10.1016/j.jped.2021.03.003. PMID: 33964214Free PMC Article
Pastores GM, Hughes DA
Drug Des Devel Ther 2020;14:591-601. Epub 2020 Feb 11 doi: 10.2147/DDDT.S149264. PMID: 32103901Free PMC Article
Camarena C, Aldamiz-Echevarria LJ, Polo B, Barba Romero MA, García I, Cebolla JJ, Ros E
Med Clin (Barc) 2017 May 10;148(9):429.e1-429.e10. Epub 2017 Mar 9 doi: 10.1016/j.medcli.2016.12.044. PMID: 28285817
Frampton JE
Am J Cardiovasc Drugs 2016 Dec;16(6):461-468. doi: 10.1007/s40256-016-0203-2. PMID: 27878737

Prognosis

Köse E, Çağatay E, Yaraş T, Kısa PT, Güler S, Gülten ZA, Akarsu M, Oktay Y, Kayalı HA, Arslan N
Turk J Med Sci 2022 Aug;52(4):1075-1084. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5410. PMID: 36326406Free PMC Article
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Bernstein DL, Lobritto S, Iuga A, Remotti H, Schiano T, Fiel MI, Balwani M
Mol Genet Metab 2018 May;124(1):11-19. Epub 2018 Mar 27 doi: 10.1016/j.ymgme.2018.03.010. PMID: 29655841
Pant M, Oshima K
Ann Diagn Pathol 2017 Dec;31:66-70. Epub 2017 Feb 9 doi: 10.1016/j.anndiagpath.2017.02.005. PMID: 28318950
Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E
Atherosclerosis 2014 Jul;235(1):21-30. Epub 2014 Apr 15 doi: 10.1016/j.atherosclerosis.2014.04.003. PMID: 24792990

Clinical prediction guides

Balwani M, Balistreri W, D'Antiga L, Evans J, Ros E, Abel F, Wilson DP
Liver Int 2023 Jul;43(7):1537-1547. Epub 2023 May 24 doi: 10.1111/liv.15620. PMID: 37222260
Köse E, Çağatay E, Yaraş T, Kısa PT, Güler S, Gülten ZA, Akarsu M, Oktay Y, Kayalı HA, Arslan N
Turk J Med Sci 2022 Aug;52(4):1075-1084. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5410. PMID: 36326406Free PMC Article
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Witeck CDR, Schmitz AC, de Oliveira JMD, Porporatti AL, De Luca Canto G, Pires MMS
J Pediatr (Rio J) 2022 Jan-Feb;98(1):4-14. Epub 2021 May 6 doi: 10.1016/j.jped.2021.03.003. PMID: 33964214Free PMC Article
Kohli R, Ratziu V, Fiel MI, Waldmann E, Wilson DP, Balwani M
Mol Genet Metab 2020 Feb;129(2):59-66. Epub 2019 Nov 18 doi: 10.1016/j.ymgme.2019.11.004. PMID: 31767214

Recent systematic reviews

Carter A, Brackley SM, Gao J, Mann JP
J Hepatol 2019 Jan;70(1):142-150. Epub 2018 Oct 11 doi: 10.1016/j.jhep.2018.09.028. PMID: 30315827

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