5'-AMP aminohydrolase activity in erythrocytes from normal and dystrophic individuals.
5'-AMP aminohydrolase activities in red blood cells from normal human adults and from patients with pseudohypertrophic dystrophy, myotonic dystrophy, limb girdle dystrophy, neuromuscular atrophy, Charcot-Marie Tooth Disease, and spinal muscular atrophy were examined. In contrast to the greatly decreased skeletal muscular levels of 5'-AMP aminohydrolase observed in Pseudohypertrophic muscular dystrophy, levels in red blood cells of all patients were not significantly different from normals. Pyruvate kinase and creatine kinase activities were determined for comparative purposes. The density distribution of normal and dystrophic erythrocytes were essentially identical.
D000659:AMP Deaminase / Q000097:blood*; D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000201:enzymology*; D009709:Nucleotide Deaminases / Q000097:blood*; D011770:Pyruvate Kinase / Q000097:blood
D011770:Pyruvate Kinase; D003402:Creatine Kinase; D009709:Nucleotide Deaminases; D000659:AMP Deaminase