Myoadenylate deaminase deficiency

Authors

  • Dr. Jack B. Shumate MD,

    Corresponding author
    1. Department of Neurology and Neurological Surgery (Neurology), Washington University Medical School, St. Louis, MO
    • Department of Neurology and Neurological Surgery (Neurology), Washington University Medical School, 660 South Euclid Avenue, Box 8111, St. Louis, MO 63110
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  • Dr. Richard Katnik MD,

    1. Department of Pediatrics (Pediatric Neurology), Washington University Medical School, St. Louis, MO
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  • Martha Ruiz Ms BA,

    1. Department of Neurology and Neurological Surgery (Neurology), Washington University Medical School, St. Louis, MO
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  • Kenneth Kaiser Mr BS,

    1. Department of Neurology and Neurological Surgery (Neurology), Washington University Medical School, St. Louis, MO
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  • Dr. Carl Frieden PhD,

    1. Department of Biochemistry, Washington University Medical School, St. Louis, MO
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  • Dr. Michael H. Brooke MD,

    1. Department of Neurology and Neurological Surgery (Neurology), Washington University Medical School, St. Louis, MO
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  • Dr. James E. Carroll MD

    1. Department of Neurology and Neurological Surgery (Neurology), Washington University Medical School, St. Louis, MO
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Abstract

Myoadenylate deaminase (adenosine monophosphate deaminase—AMPDA) was recently shown to be deficient in a group of patients by use of a histochemical and biochemical method based on the elaboration of ammonia by this enzyme as it deaminates 5′ AMP. We have confirmed the utility of this histochemical method and the existence of persons deficient in AMPDA through the use of an unrelated assay technique. The lack of enzyme activity is not associated with any inhibitory activity in the muscles of patients with this disorder. The clinical diversity of these patients suggests that this lack may represent a normal variant or a subclinical state rather than an actual disease. The occurrence of AMPDA deficiency in both sexes points to possible autosomal inheritance.

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