D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

Authors :: Kingma SDK
Steinbusch LKM
Aukema SM
Sinnema M
Panis B
Nicolai J
Rubio-Gozalbo E
Source :: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Nov 12; Vol. 41, pp. 101159. Date of Electronic Publication: 2024 Nov 12 (Print Publication: 2024).
Publication Year :: 2024
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.<br />Competing Interests: Sandra Kingma has no competing interests. Bianca Panis has no competing interests. Estela Rubio-Gozalbo has no competing interests. Joost Nicolai has no competing interests. Sietse Aukema has no competing interests. Margje Sinnema has no competing interests. Laura Steinbusch has no competing interests. Trial registration: not applicable. The parents of the patient gave informed consent for this study and publication.<br /> (© 2024 The Authors.)