pyrimidine 5' nucleotidase deficiency hemolytic anemia; P5N deficiency

Pathology

• hemolytic anemia
• implicated in the anemia of lead poisoning

Genetics

• autosomal recessive condition
• caused by defects in NT5C3/NT5C3A gene

Clinical manifestations

• hemolytic anemia
• possibly associated with learning difficulties

Laboratory

• peripheral smear
  • basophilic stippling
• high concentrations of pyrimidine nucleotides within erythrocytes

More general terms

• hemolytic anemia
• enzyme deficiency
• genetic disease of the blood/bone marrow

Additional terms

• cytosolic 5'-nucleotidase 3A; cytosolic 5'-nucleotidase 3; cytosolic 5'-nucleotidase III; pyrimidine 5'-nucleotidase 1; P5'N-1; P5N-1; PN-I; uridine 5'-monophosphate hydrolase 1; p36 (NT5C3A, NT5C3, P5N1, UMPH1, HSPC233)

Database

• OMIM: https://mirror.omim.org/entry/266120