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Decreased lecithin cholesterol acyl transferase level

MedGen UID:
1378463
Concept ID:
C4476773
Finding
Synonym: Decreased lecithin cholesterol acyl transferase activity
 
HPO: HP:0025433

Definition

Reduced level of the enzyme lecithin cholesterol acyl transferase. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased lecithin cholesterol acyl transferase level

Conditions with this feature

Norum disease
MedGen UID:
9698
Concept ID:
C0023195
Disease or Syndrome
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.\n\nIn complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.\n\nPeople with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.\n\nOther features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).

Professional guidelines

PubMed

Shamburek RD, Bakker-Arkema R, Auerbach BJ, Krause BR, Homan R, Amar MJ, Freeman LA, Remaley AT
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Recent clinical studies

Etiology

George RT, Abuhatzira L, Stoughton SM, Karathanasis SK, She D, Jin C, Buss NAPS, Bakker-Arkema R, Ongstad EL, Koren M, Hirshberg B
J Am Heart Assoc 2021 Jul 6;10(13):e014572. Epub 2021 Jun 14 doi: 10.1161/JAHA.119.014572. PMID: 34121413Free PMC Article
Mihajlovic M, Gojkovic T, Vladimirov S, Miljkovic M, Stefanovic A, Vekic J, Zeljkovic D, Trifunovic B, Kotur-Stevuljevic J, Spasojevic-Kalimanovska V, Zeljkovic A
Clin Biochem 2019 Jan;63:32-38. Epub 2018 Nov 28 doi: 10.1016/j.clinbiochem.2018.11.010. PMID: 30500525
Nair DR, Nair A, Jain A
Curr Pharm Des 2014;20(40):6230-7. doi: 10.2174/1381612820666140620122412. PMID: 24953397
Elshourbagy NA, Meyers HV, Abdel-Meguid SS
Med Princ Pract 2014;23(2):99-111. Epub 2013 Dec 11 doi: 10.1159/000356856. PMID: 24334831Free PMC Article
Shepherd J
Int J Gynaecol Obstet 1995 Sep;50 Suppl 1:S23-6. doi: 10.1016/0020-7292(95)02511-a. PMID: 8529771

Diagnosis

Trakaki A, Scharnagl H, Trieb M, Holzer M, Hinghofer-Szalkay H, Goswami N, Marsche G
Sci Rep 2020 Sep 14;10(1):15001. doi: 10.1038/s41598-020-71921-y. PMID: 32929107Free PMC Article
Yokoyama K, Tani S, Matsuo R, Matsumoto N
BMC Cardiovasc Disord 2018 Dec 5;18(1):224. doi: 10.1186/s12872-018-0967-1. PMID: 30518338Free PMC Article
Tahara D, Nakanishi T, Akazawa S, Yamaguchi Y, Yamamoto H, Akashi M, Chikuba N, Okuno S, Maeda Y, Kusumoto Y
Metabolism 1993 Jan;42(1):19-23. doi: 10.1016/0026-0495(93)90166-l. PMID: 8446043
Upton GV
Fertil Steril 1990 Jan;53(1):1-12. doi: 10.1016/s0015-0282(16)53208-7. PMID: 2403935
Nayak SS, Ramani A, Kamath SS, Kundaje GN, Aroor AR
Biochem Med Metab Biol 1988 Dec;40(3):299-304. doi: 10.1016/0885-4505(88)90132-6. PMID: 3233186

Therapy

George RT, Abuhatzira L, Stoughton SM, Karathanasis SK, She D, Jin C, Buss NAPS, Bakker-Arkema R, Ongstad EL, Koren M, Hirshberg B
J Am Heart Assoc 2021 Jul 6;10(13):e014572. Epub 2021 Jun 14 doi: 10.1161/JAHA.119.014572. PMID: 34121413Free PMC Article
Mihajlovic M, Gojkovic T, Vladimirov S, Miljkovic M, Stefanovic A, Vekic J, Zeljkovic D, Trifunovic B, Kotur-Stevuljevic J, Spasojevic-Kalimanovska V, Zeljkovic A
Clin Biochem 2019 Jan;63:32-38. Epub 2018 Nov 28 doi: 10.1016/j.clinbiochem.2018.11.010. PMID: 30500525
Shepherd J
Int J Gynaecol Obstet 1995 Sep;50 Suppl 1:S23-6. doi: 10.1016/0020-7292(95)02511-a. PMID: 8529771
Kaysen GA
Blood Purif 1994;12(1):60-7. doi: 10.1159/000170146. PMID: 7986478
Weisweiler P
Eur J Clin Pharmacol 1988;35(6):579-83. doi: 10.1007/BF00637592. PMID: 3234467

Prognosis

Mihajlovic M, Gojkovic T, Vladimirov S, Miljkovic M, Stefanovic A, Vekic J, Zeljkovic D, Trifunovic B, Kotur-Stevuljevic J, Spasojevic-Kalimanovska V, Zeljkovic A
Clin Biochem 2019 Jan;63:32-38. Epub 2018 Nov 28 doi: 10.1016/j.clinbiochem.2018.11.010. PMID: 30500525
Yokoyama K, Tani S, Matsuo R, Matsumoto N
BMC Cardiovasc Disord 2018 Dec 5;18(1):224. doi: 10.1186/s12872-018-0967-1. PMID: 30518338Free PMC Article
Dullaart RP, Tietge UJ, Kwakernaak AJ, Dikkeschei BD, Perton F, Tio RA
Atherosclerosis 2014 May;234(1):185-92. Epub 2014 Mar 11 doi: 10.1016/j.atherosclerosis.2014.02.026. PMID: 24661908
Dullaart RP, Perton F, Kappelle PJ, de Vries R, Sluiter WJ, van Tol A
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Shoji T, Nishizawa Y, Nishitani H, Yamakawa M, Morii H
Kidney Int 1992 Jun;41(6):1653-61. doi: 10.1038/ki.1992.238. PMID: 1501422

Clinical prediction guides

George RT, Abuhatzira L, Stoughton SM, Karathanasis SK, She D, Jin C, Buss NAPS, Bakker-Arkema R, Ongstad EL, Koren M, Hirshberg B
J Am Heart Assoc 2021 Jul 6;10(13):e014572. Epub 2021 Jun 14 doi: 10.1161/JAHA.119.014572. PMID: 34121413Free PMC Article
Mihajlovic M, Gojkovic T, Vladimirov S, Miljkovic M, Stefanovic A, Vekic J, Zeljkovic D, Trifunovic B, Kotur-Stevuljevic J, Spasojevic-Kalimanovska V, Zeljkovic A
Clin Biochem 2019 Jan;63:32-38. Epub 2018 Nov 28 doi: 10.1016/j.clinbiochem.2018.11.010. PMID: 30500525
Dullaart RP, Tietge UJ, Kwakernaak AJ, Dikkeschei BD, Perton F, Tio RA
Atherosclerosis 2014 May;234(1):185-92. Epub 2014 Mar 11 doi: 10.1016/j.atherosclerosis.2014.02.026. PMID: 24661908
Fournier N, Myara I, Atger V, Moatti N
Clin Chim Acta 1995 Jan 31;234(1-2):47-61. doi: 10.1016/0009-8981(94)05975-x. PMID: 7758222
Simon JB
Yale J Biol Med 1979 Jan-Feb;52(1):117-26. PMID: 377822Free PMC Article

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