Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis.
Urine from a patient with cerebrotendinous xanthomatosis (CTX) was extracted with a Sep-Pak C18 cartridge and the extract was analysed by fast atom bombardment mass spectrometry. The spectra indicated the presence of glucuronidated bile alcohols with four to seven hydroxyl groups. The method is simple and rapid and is suggested as an aid in the diagnosis of CTX with possible application to prenatal diagnosis.
D000328:Adult; D000438:Alcohols / Q000378:metabolism; D001646:Bile / Q000378:metabolism; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D014973:Xanthomatosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
D000438:Alcohols