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Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia
Desmosterolosis and lathosterolosis are multiple congenital anomaly disorders caused by defective cholesterol biosynthesis due to deficiency of the enzyme desmosterol reductase deficiency and sterol 3-beta-hydroxysteroid-delta-5-desaturase, respectively.
Cerebrotendinous xanthomatosis (CTX), an autosomal recessive disorder caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, is associated with increased levels of cholestanol.
Sitosterolemia is a rare autosomal recessive disorder caused by variants in the ATP-binding cassette (ABC) transporter genes, ABCG5 and ABCG8, which clinically cause hematologic abnormalities, tendon and tuberous xanthomas, and premature coronary artery disease.
Testing includes desmosterol, lathosterol, campesterol, cholestanol, and sitosterol for the investigation of disorders of sterol metabolism, including desmosterolosis, cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia.
Gas Chromatography-Mass Spectrometry (GC-MS)