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 language | English |
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Article number | 101159 |
Number of pages | 3 |
Journal | Molecular Genetics and Metabolism Reports |
Volume | 41 |
DOIs | |
Publication status | Published - 1 Dec 2024 |
Keywords
- D-glyceric aciduria
- GLYCTK
- D-glycerate-2-kinase deficiency
- FRUCTOSE METABOLISM
- KINASE-DEFICIENCY
- INBORN ERROR
- ACIDEMIA
- HYPERGLYCINEMIA
- PATIENT