Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase.

Abstract

Two subjects, not previously reported in detail, had severe inherited deficiencies of erythrocyte pyrimidine nucleotidase. This was manifested hematologically by moderate hemolytic anemia with splenomegaly, morphologically by punctate basophilic stippling of Wright's stained erythrocytes, and biochemically by intraerythrocytic accumulation of pyrimidine nucleotides, elevated concentrations of reduced glutathione, and partial deficiencies of ribosephosphate pyrophosphokinase. All 5 of their children were asymptomatic and phenotypically normal except for intermediate reductions in activities of pyrimidine nucleotidase consistent with heterozygosity for an autosomal recessive defect.

• Authors: D E Paglia, K Fink, W N Valentine
• Journal: Acta haematologica (Acta Haematol) Vol. 63 Issue 5 Pg. 262-7 ( 1980) ISSN: 0001-5792 [Print] Switzerland
• PMID: 6251690 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Adenine Nucleotides
• Ribose-Phosphate Pyrophosphokinase
• Nucleotidases
• 5'-Nucleotidase

Topics

• 5'-Nucleotidase
• Adenine Nucleotides (blood)
• Adult
• Anemia, Hemolytic, Congenital (genetics)
• Erythrocytes (enzymology)
• Female
• Glycolysis
• Humans
• Middle Aged
• Nucleotidases (deficiency)
• Ribose-Phosphate Pyrophosphokinase (analysis, deficiency)