Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to

Common Name(s)

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to

Deficiency of pyrimidine 5-prime nucleotidase, also called uridine 5-prime monophosphate hydrolase, causes an autosomal recessive hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The enzyme is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. {10:Hirono et al. (1988)} suggested that this deficiency is the third most common RBC enzymopathy--after G6PD ({300908}) and pyruvate kinase (see {266200}) deficiencies--causing hemolysis (summary by {13:Marinaki et al., 2001}).
 

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