Disease - P5N deficiency
Definition
Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties.
Acronym
P5ND
Synonyms
Hemolytic anemia due to P5N deficiency
Hemolytic anemia due to UMPH1 deficiency
Hemolytic anemia due to UMPH1 deficiency
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