Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

LCAT deficiency

MedGen UID:: 1830326
•Concept ID:: C5779633
•: Disease or Syndrome

Synonyms:	Lecithin Acyltransferase Deficiency; Lecithin Cholesterol Acyltransferase Deficiency
SNOMED CT:	Lecithin cholesterol acyltransferase deficiency (238091006); LCAT (lecithin-cholesterol acyltransferase) deficiency (238091006); LCAT deficiency (238091006)
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). Autosomal recessive inheritance (Orphanet)

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	LCAT

Monarch Initiative:	MONDO:0018999
Orphanet:	ORPHA650

Definition

Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. [from OMIM]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLCAT deficiency
- CROGVFish-eye disease
- CROGVNorum disease

Abnormal circulating organic compound concentration
- Abnormal circulating lipid concentration
  - Abnormal circulating cholesterol concentration
    - Abnormality of lipoprotein cholesterol concentration
      - Abnormal HDL cholesterol concentration
        Decreased HDL cholesterol concentration
        LCAT deficiency
        Fish-eye disease
        Norum disease

Professional guidelines

PubMed

Very low HDL levels: clinical assessment and management.

Bonilha I, Luchiari B, Nadruz W, Sposito AC
Arch Endocrinol Metab 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. PMID: 36651718 Free PMC Article

Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo.

Freeman LA, Shamburek RD, Sampson ML, Neufeld EB, Sato M, Karathanasis SK, Remaley AT
J Lipid Res 2019 May;60(5):1050-1057. Epub 2019 Feb 26 doi: 10.1194/jlr.D090233. PMID: 30808683 Free PMC Article

Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.

Shamburek RD, Bakker-Arkema R, Auerbach BJ, Krause BR, Homan R, Amar MJ, Freeman LA, Remaley AT
J Clin Lipidol 2016 Mar-Apr;10(2):356-67. Epub 2015 Dec 23 doi: 10.1016/j.jacl.2015.12.007. PMID: 27055967 Free PMC Article

See all (4)

Recent clinical studies

Etiology

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Mehta R, Elías-López D, Martagón AJ, Pérez-Méndez OA, Sánchez MLO, Segura Y, Tusié MT, Aguilar-Salinas CA
Lipids Health Dis 2021 Jul 13;20(1):70. doi: 10.1186/s12944-021-01498-6. PMID: 34256778 Free PMC Article

Current Status of Familial LCAT Deficiency in Japan.

Kuroda M, Bujo H, Yokote K, Murano T, Yamaguchi T, Ogura M, Ikewaki K, Koseki M, Takeuchi Y, Nakatsuka A, Hori M, Matsuki K, Miida T, Yokoyama S, Wada J, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):679-691. Epub 2021 Apr 18 doi: 10.5551/jat.RV17051. PMID: 33867422 Free PMC Article

Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730

Lipoprotein-X fifty years after its original discovery.

Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707

Role of LCAT in Atherosclerosis.

Ossoli A, Simonelli S, Vitali C, Franceschini G, Calabresi L
J Atheroscler Thromb 2016;23(2):119-27. Epub 2015 Nov 26 doi: 10.5551/jat.32854. PMID: 26607351

See all (47)

Diagnosis

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730

A review on lecithin:cholesterol acyltransferase deficiency.

Saeedi R, Li M, Frohlich J
Clin Biochem 2015 May;48(7-8):472-5. Epub 2014 Aug 27 doi: 10.1016/j.clinbiochem.2014.08.014. PMID: 25172171

Analysis of familial hypoalphalipoproteinemia syndromes.

Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505

Lipoprotein-X.

Narayanan S
CRC Crit Rev Clin Lab Sci 1979 Aug;11(1):31-51. doi: 10.3109/10408367909105853. PMID: 389551

See all (62)

Therapy

Very low HDL levels: clinical assessment and management.

Bonilha I, Luchiari B, Nadruz W, Sposito AC
Arch Endocrinol Metab 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. PMID: 36651718 Free PMC Article

LCAT protects against Lipoprotein-X formation in a murine model of drug-induced intrahepatic cholestasis.

Amar MJA, Freeman LA, Nishida T, Sampson ML, Pryor M, Vaisman BL, Neufeld EB, Karathanasis SK, Remaley AT
Pharmacol Res Perspect 2020 Feb;8(1):e00554. Epub 2019 Dec 29 doi: 10.1002/prp2.554. PMID: 31893124 Free PMC Article

Immune-mediated acquired lecithin-cholesterol acyltransferase deficiency: A case report and literature review.

Ishibashi R, Takemoto M, Tsurutani Y, Kuroda M, Ogawa M, Wakabayashi H, Uesugi N, Nagata M, Imai N, Hattori A, Sakamoto K, Kitamoto T, Maezawa Y, Narita I, Hiroi S, Furuta A, Miida T, Yokote K
J Clin Lipidol 2018 Jul-Aug;12(4):888-897.e2. Epub 2018 May 15 doi: 10.1016/j.jacl.2018.05.002. PMID: 29937398

Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.

Lecithin cholesterol acyltransferase: an anti- or pro-atherogenic factor?

Rousset X, Shamburek R, Vaisman B, Amar M, Remaley AT
Curr Atheroscler Rep 2011 Jun;13(3):249-56. doi: 10.1007/s11883-011-0171-6. PMID: 21331766 Free PMC Article

See all (31)

Prognosis

High-Density Lipoproteins and the Kidney.

Strazzella A, Ossoli A, Calabresi L
Cells 2021 Mar 31;10(4) doi: 10.3390/cells10040764. PMID: 33807271 Free PMC Article

Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730

Lipoprotein-X fifty years after its original discovery.

Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707

Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.

Hirashio S, Ueno T, Naito T, Masaki T
Clin Exp Nephrol 2014 Apr;18(2):189-93. Epub 2013 Oct 31 doi: 10.1007/s10157-013-0895-4. PMID: 24174160

Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease.

Rousset X, Vaisman B, Amar M, Sethi AA, Remaley AT
Curr Opin Endocrinol Diabetes Obes 2009 Apr;16(2):163-71. doi: 10.1097/med.0b013e328329233b. PMID: 19306528 Free PMC Article

See all (30)

Clinical prediction guides

Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans.

Pavanello C, Ossoli A, Strazzella A, Risè P, Veglia F, Lhomme M, Parini P, Calabresi L
J Lipid Res 2022 Jul;63(7):100232. Epub 2022 May 19 doi: 10.1016/j.jlr.2022.100232. PMID: 35598637 Free PMC Article

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M
J Lipid Res 2022 Mar;63(3):100169. Epub 2022 Jan 20 doi: 10.1016/j.jlr.2022.100169. PMID: 35065092 Free PMC Article

High-Density Lipoproteins and the Kidney.

Strazzella A, Ossoli A, Calabresi L
Cells 2021 Mar 31;10(4) doi: 10.3390/cells10040764. PMID: 33807271 Free PMC Article

Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730

Lipoprotein-X fifty years after its original discovery.

Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707

See all (74)

Recent systematic reviews

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M
J Lipid Res 2022 Mar;63(3):100169. Epub 2022 Jan 20 doi: 10.1016/j.jlr.2022.100169. PMID: 35065092 Free PMC Article

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

See all (2)

MedGen

National Center for Biotechnology Information

Send to:

LCAT deficiency

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity