Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout.
AMP deaminase activity was undetectable by a sensitive spectrophotometric assay in the muscle biopsy of a 37-year-old man with gout and exercise-related cramps and myalgia. Venous ammonia failed to rise after ischemic exercise, but the diagnostic value of this test is uncertain because changes of plasma ammonia after exercise varied greatly in different normal individuals. In the patient, AMP deaminase activity was normal not only in erythrocytes, leukocytes and cultured fibroblasts but also in muscle cultures. Presence of AMP deaminase in muscle cultures was probably due to the expression of a fetal isoenzyme under separate genetic control from adult muscle AMP deaminase.
D000659:AMP Deaminase / Q000172:deficiency*; D000328:Adult; D001706:Biopsy; D046508:Culture Techniques; D006073:Gout / Q000201:enzymology*; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000201:enzymology*; D009132:Muscles / Q000201:enzymology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D005082:Physical Exertion
D009709:Nucleotide Deaminases; D000659:AMP Deaminase