Abstract

D-glyceric aciduria (DGA) is caused by D-glycerate-2-kinase deficiency due to biallelic pathogenic variants in GLYCTK. It is associated with variable neurological symptoms. DGA is extremely rare, and genetic variants are only known in 7 previously described patients. We report a new patient with DGA and a novel homozygous GLYCTK variant.
Original languageEnglish
Article number101159
Number of pages3
JournalMolecular Genetics and Metabolism Reports
Volume41
DOIs
Publication statusPublished - 1 Dec 2024

Keywords

  • D-glyceric aciduria
  • GLYCTK
  • D-glycerate-2-kinase deficiency
  • FRUCTOSE METABOLISM
  • KINASE-DEFICIENCY
  • INBORN ERROR
  • ACIDEMIA
  • HYPERGLYCINEMIA
  • PATIENT

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