Myoadenylate deaminase deficiency.
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.
Goebel
H H
HH
Bardosi
A
A
Conrad
B
B
Kuhlendahl
H D
HD
DiMauro
S
S
Rumpf
K W
KW
D000659:AMP Deaminase / Q000172:deficiency*; D000328:Adult; D000641:Ammonia / Q000097:blood; D001706:Biopsy; D004576:Electromyography; D005080:Exercise Test; D006801:Humans; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009468:Neuromuscular Diseases / Q000201:enzymology* / Q000473:pathology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D012507:Sarcoidosis / Q000201:enzymology
D007773:Lactates; D019344:Lactic Acid; D000641:Ammonia; D009709:Nucleotide Deaminases; D000659:AMP Deaminase