U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

MedGen UID:
423619
Concept ID:
C2936797
Disease or Syndrome
Synonyms: Acid Lipase Disease; Acid Lipase Diseases; Cholesterol ester hydrolase deficiency; Deficiencies, LAL; Deficiencies, LIPA; Deficiency, LAL; Deficiency, LIPA; Disease, Acid Lipase; Diseases, Acid Lipase; LAL Deficiencies; LAL Deficiency; LIPA Deficiencies; LIPA Deficiency; Lipase Disease, Acid; Lipase Diseases, Acid; Lysosomal Acid Lipase Deficiency

Professional guidelines

PubMed

Mashima R, Takada S
Int J Mol Sci 2022 Dec 8;23(24) doi: 10.3390/ijms232415549. PMID: 36555187Free PMC Article
Schonfeld EA, Brown RS Jr
Clin Liver Dis 2017 Nov;21(4):673-686. Epub 2017 Jul 29 doi: 10.1016/j.cld.2017.06.001. PMID: 28987255
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

Recent clinical studies

Etiology

Li F, Zhang H
Arterioscler Thromb Vasc Biol 2019 May;39(5):850-856. doi: 10.1161/ATVBAHA.119.312136. PMID: 30866656Free PMC Article
Zhang H
Curr Opin Lipidol 2018 Jun;29(3):218-223. doi: 10.1097/MOL.0000000000000507. PMID: 29547398Free 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
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ
J Inherit Metab Dis 2013 Mar;36(2):293-307. Epub 2013 Feb 1 doi: 10.1007/s10545-013-9587-1. PMID: 23371450Free PMC Article

Diagnosis

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
Kanegane H, Noguchi A, Yamada Y, Yasumi T
Pediatr Int 2023 Jan-Dec;65(1):e15516. doi: 10.1111/ped.15516. PMID: 36843347
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
Guardamagna O, Guaraldi F
Curr Pediatr Rev 2017;13(4):232-242. doi: 10.2174/1573396314666180111144514. PMID: 29332587

Therapy

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
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
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
Li F, Zhang H
Arterioscler Thromb Vasc Biol 2019 May;39(5):850-856. doi: 10.1161/ATVBAHA.119.312136. PMID: 30866656Free 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

Prognosis

Zhao T, Liu S, Hanna NH, Jalal S, Ding X, Wan J, Yan C, Du H
J Immunother Cancer 2023 Mar;11(3) doi: 10.1136/jitc-2022-006272. PMID: 36914206Free PMC Article
Trabucchi A, Bombicino SS, Marfía JI, Sabljic AV, Iacono RF, Smith I, Mc Callum GJ, Targovnik AM, Wolman FJ, Fingermann M, Alonso LG, Miranda MV, Valdez SN
J Immunol Methods 2022 Dec;511:113365. Epub 2022 Oct 4 doi: 10.1016/j.jim.2022.113365. PMID: 36202252Free PMC Article
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
Wolman SR, Heppner GH, Wolman E
FASEB J 1997 Jun;11(7):535-43. doi: 10.1096/fasebj.11.7.9212077. PMID: 9212077

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
Fischer AW, Jaeckstein MY, Heeren J
Adipocyte 2022 Dec;11(1):28-33. doi: 10.1080/21623945.2021.2013416. PMID: 34957913Free 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
Gomaraschi M, Bonacina F, Norata GD
Trends Pharmacol Sci 2019 Feb;40(2):104-115. Epub 2019 Jan 18 doi: 10.1016/j.tips.2018.12.006. PMID: 30665623

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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...