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Myoadenylate deaminase deficiency myopathy in pregnancy

✍ Scribed by J. Bellver; J. Cervera; A. Boldó; A. Abad; A. Perales; R. García Domenech; J. A. Román; J. Monleón

Book ID
105602682
Publisher
Springer
Year
1997
Tongue
English
Weight
180 KB
Volume
259
Category
Article
ISSN
0003-9128

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Myoadenylate deaminase deficiency
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Two types of myoadenylate deaminase (MAD) deficiency have been described, primary or inherited, and secondary or acquired MAD deficiency. In this study, we investigated whether secondary MAD deficiency is indeed acquired or merely coincidental. We demonstrated the same underlying molecular defect, a

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A 31-year-old woman developed an acute, potentially fatal rhabdomyolysis of undetermined origin. Muscle biopsy revealed selective lysis involving exclusively type 2a fibers. Myoadenylate-deaminase (MAD) deficiency was proven by a negative histochemical reaction as well as by an enzymatic biochemical