ISSN:
1432-1440
Keywords:
Myoadenylate deaminase deficiency
;
Histochemistry
;
Biochemistry
;
Metabolic myopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary This report concerns two unrelated males; one had sarcoidosis, sarcoid myopathy and muscle weakness, and the other had exercise-induced weakness and myalgia. Both patients had a lack of ammonia rise in their serum after an ischemic work test, minimal histochemical activity of myoadenylate deaminase in repeated muscle biopsies, and less than 5% of normal biochemical activity of myoadenylate deaminase in their skeletal muscles. These three criteria establish primary myoadenylate deaminase deficiency as a separate primary metabolic muscle disease which merits differential diagnostic consideration when patients complain of muscle weakness and cramps.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01711958
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