Phosphatidylcholine-cholesteryl acyltransferase deficiency

In 1967 and 1968, Gjone and Norum first reported a familial disease characterized by proteinuria, anemia, hyperlipidemia, and corneal opacity. Further research found that patients had elevated plasma cholesterol and triacylglycerol levels, and hemolytic eggs. Decreased phospholipids, increased levels of free cholesterol, phosphatidylcholine, often affect the kidneys, and renal failure is the cause of death.

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