[MIM 266 120]

Third most common cause of intra-erythrocytic enzymopathy after pyruvate kinase deficiency and glucose-6 - phosphatase deficiency (see these terms). Autosomal recessive transmission of a mutation in the NT5C3 gene (7p14.3). Pyrimidine 5' nucleotidase 1 is an enzyme contributing to the degradation of the ribosomal RNA in reticulocytes. Its deficiency causes a toxic accumulation of pyrimidines in erythrocytes, resulting in hemolysis. Pyrimidine 5' nucleotidase deficiency 2 does not cause any pathology.

Clinical picture:

-        non-spherocytic chronic hemolytic anemia with reticulocytosis, that generally symptomatic around 15 years of age: jaundice, splenomegaly, vesicular lithiases

-        sometimes: leukopenia, thrombocytopenia; iron overload in case of frequent transfusions

-        blood smear: intra-erythrocytic basophil punctuations

-        in 10% of cases: moderate developmental delay and learning disabilities

-        episodes of acute anemia in case of intercurrent infection.

There are acquired forms of pyrimidine 5' nucleotidase deficiency 1: its intra-erythrocytic level is low to in case of lead poisoning or in case of ß-Thalassemia.

Anesthetic implications:

check total blood count + leukocytes formula

References :

-        Rees DC, Duley JA, Marinaki AM.
Pyrimidine 5'-nucleotidase deficiency.
Br J Haematol 2003; 120: 375-83.

-        Zanella A, Bianchi P, Fermo E, Valentini G.
Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
Br J Haematol 2006; 133:113-23.

-        Altounian L, Perrin J, Fouyssac F, Fenneteau O, Da Costa L et al.
Un cas de déficit en pyrimidine 5’-nucléotidase associé à un syndrome polymalformatif.
Ann Biol Clin 2015 ; 73 : 587-90.

Updated: August 2017