title: Abnormalities of bile acids in serum and bile from patients with myotonic muscular dystrophy.
abstract: 1. Serum bile acids in seven patients with adult type myotonic dystrophy and 22 normal persons were quantitatively analysed by gas-liquid chromatography and gas chromatography-mass spectrometry for cholesterol, gamma-glutamyltransferase and bilirubin. There was no bile obstruction in any patient. 2. Dexoycholic acid values in all mothers of patients with congenital type myotonic dystrophy were three times (2.1 mumol/l) that of the control (0.7 mumol/l). 3. Uncommon bile acids were detected in the patients' sera. One of them appeared to be dihydroxymono-oxocholanic acid, having a longer side chain. Another one appeared to be dihydroxycholanic acid, with a steroid-nucleus structure similar to chenodeoxycholic acid and with a longer side chain. 4. Biliary bile acids from three patients and one normal person were also analysed, and this revealed a remarkable decrease in ursodeoxycholic acid in the patients. 5. The presence of bile acid abnormality in patients with myotonic muscular dystrophy is proposed.
mesh_terms: D000293:Adolescent; D000328:Adult; D001646:Bile / Q000378:metabolism*; D001647:Bile Acids and Salts / Q000097:blood / Q000378:metabolism*; D001663:Bilirubin / Q000097:blood; D002784:Cholesterol / Q000097:blood; D002849:Chromatography, Gas; D005260:Female; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000378:metabolism*; D005723:gamma-Glutamyltransferase / Q000097:blood
chemical_list: D001647:Bile Acids and Salts; D002784:Cholesterol; D005723:gamma-Glutamyltransferase; D001663:Bilirubin