Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome

Ann Biol Clin (Paris). 2015 Sep-Oct;73(5):587-90. doi: 10.1684/abc.2015.1078.

Abstract

A pyrimidine 5'-nucleotidase deficiency in an adult is reported. Interestingly, the P5'N-1 deficiency was associated to a polymalformative syndrome and was characterized by a chronic, pancytopenic evolution with concomitant dyserythropoiesis.

Keywords: P5’N-1; polymalformative syndrome; pyrimidine 5’-nucleotidase deficiency.

Publication types

  • Case Reports

MeSH terms

  • 5'-Nucleotidase / deficiency*
  • Anemia, Hemolytic / genetics*
  • Erythrocytes, Abnormal / enzymology*
  • Humans
  • Male
  • Pancytopenia / etiology
  • Young Adult

Substances

  • 5'-Nucleotidase