Anemia due to disorders of nucleotide metabolism

Definition:

Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiencies of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan.

References:

[1]. A Jurecka, et al. Inborn errors of purine and pyrimidine metabolism. J Inherit Metab Dis. 2009 Apr;32(2):247-63. [Content Brief]

[2]. A M Marinaki, et al. Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. Blood. 2001 Jun 1;97(11):3327-32. [Content Brief]

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