Myoadenylate deaminase deficiency: an enzyme defect in search of a disease.
The frequency of MAD deficiency in cases with exercise intolerance compared with the frequency in series of consecutive muscle biopsies suggests a relation between the deficiency and exercise intolerance. Deficiency cases can be presumed by an impaired NH3 production during ischaemic exercise. The ischaemic exercise test also gives information concerning the familial character of the deficiency.
D000659:AMP Deaminase / Q000172:deficiency*; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000641:Ammonia / Q000097:blood; D001706:Biopsy; D005260:Female; D006801:Humans; D019271:Hypoxanthine; D007042:Hypoxanthines / Q000097:blood; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology*; D009709:Nucleotide Deaminases / Q000172:deficiency*; D010375:Pedigree; D005082:Physical Exertion
D007042:Hypoxanthines; D007773:Lactates; D019271:Hypoxanthine; D019344:Lactic Acid; D000641:Ammonia; D009709:Nucleotide Deaminases; D000659:AMP Deaminase