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LCAT deficiency

MONDO:0018999

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

Also known as: lecithin-cholesterol acyltransferase deficiency

4 clinical trials for this condition and its sub-types.

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Sub-types

Norum disease (2) Fish eye disease (1)

Broader categories

Disease (717) Metabolic disease (241) Human disease (15) Hypoalphalipoproteinemia (1) Disease by developmental or physiological process (0)
Trials to join now! 1 Not yet recruiting 1 Completed 2
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  • Rare disease study seeks to unlock secrets of LCAT deficiency

    Knowledge-focused Recruiting now

    This study is not testing a new treatment. Instead, it aims to collect health information from 40 people with LCAT deficiency, a rare genetic disorder that affects cholesterol and kidney function. Researchers will review medical records, perform blood and urine tests, and track h…

    Sponsor: University of Pennsylvania • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:29 UTC

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