SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genetic Conditions →
Complete LCAT deficiency
URL of this page: https://medlineplus.gov/genetics/condition/complete-lcat-deficiency/

Complete LCAT deficiency

Description

Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.

In 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.

People 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.

Other 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).

Frequency

Complete LCAT deficiency is a rare disorder. Approximately 70 cases have been reported in the medical literature.

Causes

Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT).

The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL).

LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol deposits in the corneas, kidneys, and other tissues and organs. LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas.

Learn more about the gene associated with Complete LCAT deficiency

  • LCAT

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • Familial LCAT deficiency
  • Familial lecithin-cholesterol acyltransferase deficiency
  • FLD
  • LCAT deficiency
  • Lecithin acyltransferase deficiency
  • Lecithin:cholesterol acyltransferase deficiency
  • Norum disease
  • Norum's disease

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Norum disease From the National Institutes of Health

Genetic and Rare Diseases Information Center

  • Familial LCAT deficiency From the National Institutes of Health

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Clinical Trials

  • ClinicalTrials.gov From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

References

  • Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasca G, Gesualdo L, Gigante M, Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini G. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc Biol. 2005 Sep;25(9):1972-8. doi: 10.1161/01.ATV.0000175751.30616.13. Epub 2005 Jun 30. Citation on PubMed
  • Jahanzad I, Amoueian S, Attaranzadeh A. Familial lecithin-cholesterol acyltransferase deficiency. Arch Iran Med. 2009 Mar;12(2):179-81. Citation on PubMed
  • Roshan B, Ganda OP, Desilva R, Ganim RB, Ward E, Haessler SD, Polisecki EY, Asztalos BF, Schaefer EJ. Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature. J Clin Lipidol. 2011 Nov-Dec;5(6):493-9. doi: 10.1016/j.jacl.2011.07.002. Epub 2011 Aug 23. Citation on PubMed or Free article on PubMed Central
  • Savel J, Lafitte M, Pucheu Y, Pradeau V, Tabarin A, Couffinhal T. Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency. Vasc Health Risk Manag. 2012;8:357-61. doi: 10.2147/VHRM.S29985. Epub 2012 Jun 5. Citation on PubMed or Free article on PubMed Central
  • Shoji K, Morita H, Ishigaki Y, Rivard CJ, Takayasu M, Nakayama K, Nakayama T, Inoue Y, Ayaki M, Yoshimura A. Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review. Clin Nephrol. 2011 Oct;76(4):323-8. doi: 10.5414/cn106484. Citation on PubMed
Enlarge image

Related Health Topics

  • Corneal Disorders
  • Genetic Disorders
  • Kidney Diseases

MEDICAL ENCYCLOPEDIA

  • Corneal transplant
  • Genetics
  • Hemolytic anemia

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated August 1, 2013
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP