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Lecithin Acyltransferase Deficiency Disorder

Last updated Aug. 10, 2017

Approved by: Krish Tangella MD, MBA, FCAP


The topic Lecithin Acyltransferase Deficiency Disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition Complete LCAT Deficiency Disorder.

Quick Summary:

  • Complete Lecithin Cholesterol Acyltransferase Deficiency Disorder (or Complete LCAT Deficiency Disorder) is an extremely rare genetic disorder. It is inherited in an autosomal recessive manner
  • The disorder is caused by mutation(s) in the LCAT gene, which is located on the long arm of chromosome 16. The LCAT gene codes for the enzyme lecithin cholesterol acyltransferase, which helps cholesterol from blood and body tissues bind lipoproteins, for transport to the liver
  • When there is a mutation in the LCAT gene, the enzyme may become defective in either its alpha-LCAT activity or in both its alpha- and beta-LCAT activities. The activities differ in the kind of lipoprotein the cholesterol binds to. This causes the deposition of fat in organs, with a primary effect on the eyes and kidneys
  • The signs and symptoms of Complete LCAT Deficiency Disorder can include clouding of the corneas due to fat deposits, progressive malfunction of the kidneys due to fat deposits in the glomeruli, and premature breakdown of red blood cells leading to anemia
  • Kidney failure and vision deterioration are some of the potential complications of Complete LCAT Deficiency Disorder. If LCAT deficiency is partial, the symptoms may be limited only to the eyes and liver
  • A diagnosis of Complete LCAT Deficiency Disorder can be undertaken prenatally or after birth. The diagnosis may involve a physical examination, the assessment of symptoms, evaluation of family medical history, blood and urine tests, and confirmatory genetic testing
  • Complete LCAT Deficiency Disorder cannot be cured; however, the symptoms may be treated. Some of the treatment options include corticosteroid medication for anemia, corneal transplantation for vision defects, dietary restrictions for salt intake, dialysis, and kidney transplantation for any associated progressive kidney dysfunction (if necessary)
  • Individuals with Complete LCAT Deficiency Disorder are reported to have a normal life expectancy, if the condition is diagnosed and managed properly. Nonetheless, a progression to end-stage renal disease may have a poor outcome

Please find comprehensive information on Complete LCAT Deficiency Disorder regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 10, 2017
Last updated: Aug. 10, 2017