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Myoadenylate Deaminase Deficiency: An Enzyme Defect in Search of a Disease

  • E. Joosten
  • C. van Bennekom
  • F. Oerlemans
  • C. De Bruyn
  • T. Oei
  • J. Trijbels
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

In 1978 Fischbein et a1,1 described 5 patients with a myoadenylate deaminase (MAD) deficiency, which were detected during a histochemical screening of 250 consecutive muscle biopsies. The deficiency was confirmed by a biochemical assay of the enzyme. Clinically three of the patients complained of muscle cramping, in one case associated with postexercise fatigue. CK was only moderately elevated, the myogram showed minor abnormalities, in muscle there were histologically no or only slight alterations. These three patients didn’t show any muscle weakness or atrophy. In 1979 they,2 described 7 other patients, three of them, however, showing a quite different clinical picture with signs of collagen vascular disease. In their series of consecutive muscle biopsies they found a frequency of about 1,5% of MAD deficient biopsies. Other authors,3,4,5 described a deficiency in about 1,5–2,0% of the biopsies. Half of these biopsies came from patients with a clinical symptomatology of exercise intolerance with muscular pain and/or fatigue. The other half came from patients displaying a wide diversity of partly well defined clinical entities, among others collagen vascular disease, neuropathy, amyotrophic lateral sclerosis, dystrophy, cardioskeletal myopathy, spinal muscular atrophy, paroxysmal myoglobinuria, facio-scapulo-humeral syndrome, infantile hypotonia and so on.

Keywords

Amyotrophic Lateral Sclerosis Spinal Muscular Atrophy Exercise Intolerance Collagen Vascular Disease Enzyme Defect 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • E. Joosten
    • 1
  • C. van Bennekom
    • 2
  • F. Oerlemans
    • 2
  • C. De Bruyn
    • 2
  • T. Oei
    • 2
  • J. Trijbels
    • 3
  1. 1.Dept. NeurologyRadboud Hospital, Catholic UniversityNijmegenThe Netherlands
  2. 2.Human GeneticsRadboud Hospital, Catholic UniversityNijmegenThe Netherlands
  3. 3.PediatricsRadboud Hospital, Catholic UniversityNijmegenThe Netherlands

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