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Reduced circulating pyrimidine 5-prime-nucleotidase activity

MedGen UID:
1053808
•Concept ID:
CN376753
•
Finding
HPO: HP:6000240

Definition

The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced circulating pyrimidine 5-prime-nucleotidase activity

Conditions with this feature

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
MedGen UID:
341470
•Concept ID:
C1849507
•
Disease or Syndrome
A deficiency of pyrimidine 5-prime nucleotidase (P5N), also called uridine 5-prime monophosphate hydrolase (UMPH1), causes congenital nonspherocytic hemolytic anemia-8 (CNSHA8), which is 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. 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 Marinaki et al., 2001).
See: Condition Record
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Professional guidelines

PubMed

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Prognosis

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