Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene

Am J Hematol. 2020 Nov;95(11):1423-1426. doi: 10.1002/ajh.25946. Epub 2020 Aug 19.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Dyserythropoietic, Congenital* / blood
  • Anemia, Dyserythropoietic, Congenital* / drug therapy
  • Anemia, Dyserythropoietic, Congenital* / genetics
  • Anemia, Dyserythropoietic, Congenital* / pathology
  • Aspartate Carbamoyltransferase* / genetics
  • Aspartate Carbamoyltransferase* / metabolism
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)* / genetics
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)* / metabolism
  • Child, Preschool
  • Dihydroorotase* / genetics
  • Dihydroorotase* / metabolism
  • Homozygote*
  • Humans
  • Male
  • Mutation*
  • Uridine / administration & dosage*

Substances

  • CAD trifunctional enzyme
  • Aspartate Carbamoyltransferase
  • Dihydroorotase
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
  • Uridine