cerebrotendinous xanthomatosis

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A lipid storage disease characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. It is caused by a deficiency of the mitochondrial sterol 27-hydroxylase CYP27A1.

Subjects: Chemistry — Medicine and Health.

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