Pyrimidine-5-nucleotidase deficiency

external

• Causes

  • NT5C3A gene mutation

• Effects

  • Basophilic stippling

• Parents

  • Autosomal recessive congenital metabolic disease

• Description

  • "Accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Abnormality of RBC nucleotide metabolism causing hereditary non-spherocytic haemolytic anaemia."