Beschreibung:
<jats:title>Abstract</jats:title><jats:p>Hereditary pyrimidine 5‐nucleotidase (P5′N‐1) deficiency is a very rare disorder. Here, we describe a new mutation in a Turkish family. Although functional tests have not been performed, our findings confirm that the homozygous mutational state leads to clinical manifest P5′N‐1 deficiency, while heterozygosity does not lead to hemolysis or anemia.</jats:p>