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Alpha-hydroxybutyrate dehydrogenase activity in sex-linked muscular dystrophy
  1. H. A. Johnston1,
  2. J. H. Wilkinson2,
  3. Wendy A. Withycombe3,
  4. S. Raymond2
  1. Medical Research Council Population Genetics Research Unit, Oxford
  2. Department of Chemical Pathology, Westminster Medical School, University of London
  3. Pepper Laboratory of Clinical Medicine, University of Pennsylvania, Philadelphia, Pa., U.S.A.


    In two families with severe sex-linked muscular dystrophy, high levels of α-hydroxybutyrate dehydrogenase (HBD), lactate dehydrogenase (LD), aspartate transaminase (AspT), aldolase, and creatine phosphokinase (CPK) were found in the sera of three young affected males. In both families the mother had a raised level of HBD activity. Four sisters of the three affected boys had raised serum enzyme levels, and they are regarded as presumptive carriers of the disease. Biopsy specimens of dystrophic muscle had LD and HBD contents which were significantly lower than those of control specimens, while the HBD/LD ratios were markedly greater. Muscle from two unaffected members of the same family also exhibited high ratios, indicating the presence of the electrophoretically fast LD isoenzymes, and this was confirmed by acrylamide-gel electrophoresis.

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    • 1 Present address: Department of Medicine, University of Manchester.

    • 2 Present address: Pepper Laboratory of Clinical Medicine, University of Pennsylvania, Philadelphia, U.S.A.

    • 3 Present address: Department of Chemical Pathology, St. Mary's Hospital Medical School, University of London.