Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?

  title={Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?},
  author={Neil A. Lachant and Charles R. Zerez and J Barredo and Donna W Lee and S M Savely and Kouichi R. Tanaka},
  volume={77 12},
Adenylate kinase (AK) modulates the interconversion of adenine nucleotides (AMP + adenosine triphosphate----2 ADP). We evaluated the fifth kindred with hereditary erythrocyte (RBC) AK deficiency. The proband had chronic hemolytic anemia. Her RBC had undetectable AK activity when measured spectrophotometrically, whereas those of her parents had half-normal AK activity. AK electrophoresis showed only AK-1 in the parents. The activities of pyruvate kinase and phosphoribosylpyrophosphate synthetase… CONTINUE READING
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