P5N deficiency

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

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Disease - P5N deficiency

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Disease - P5N deficiency

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Definition

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