Myoadenylate deaminase deficiency: A clinical, genetic, and biochemical study in nine families
| Autor: | M. G. Joosten, Jacques H. Veerkamp, T. Lian Oei, Ron A. Wevers, Alga E.M. Jacobs, S.P.T. Sinkeler, Ben C.J. Hamel |
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| Rok vydání: | 1988 |
| Předmět: |
myalgia
Heterozygote medicine.medical_specialty animal structures Physiology Biology Deficiency state AMP Deaminase Cellular and Molecular Neuroscience Adenosine deaminase Physiology (medical) Internal medicine Biopsy medicine Clinical genetic Humans Clinical significance medicine.diagnostic_test Homozygote AMP deaminase Heterozygote advantage Pedigree Endocrinology Nucleotide Deaminases Exercise Test biology.protein Neurology (clinical) medicine.symptom |
| Zdroj: | Muscle & Nerve. 11:312-317 |
| ISSN: | 1097-4598 0148-639X |
| DOI: | 10.1002/mus.880110406 |
| Popis: | The clinical significance of myoadenylate deaminase (MAD) deficiency and its mode of inheritance is still questioned. There were 36 relatives of 9 unrelated MAD deficient patients who were examined with the aid of a standardized ischemic forearm test: 8 new cases of MAD deficiency were detected, 5 of which were confirmed histochemically and biochemically. Obligate heterozygotes showed a normal ammonia production and MAD staining, but the mean activity of the enzyme was significantly less than in a group of controls. The results obtained from the family study strongly suggest an autosomal recessive mode of inheritance. However, only 2 of the 8 newly found MAD deficient individuals complained of exertional myalgia, whereas the remaining 6 were without any symptoms or complaints. This finding casts doubt on the clinical significance of MAD deficiency and the relationship of the deficiency state with exertional myalgia. |
| Databáze: | OpenAIRE |
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