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

Sandra D K Kingma; Laura K M Steinbusch; Sietse M Aukema; Margje Sinnema; Bianca Panis; Joost Nicolai; Estela Rubio-Gozalbo

doi:10.1016/j.ymgmr.2024.101159

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

Mol Genet Metab Rep. 2024 Nov 12:41:101159. doi: 10.1016/j.ymgmr.2024.101159. eCollection 2024 Dec.

Authors

Sandra D K Kingma^{1

2}, Laura K M Steinbusch³, Sietse M Aukema³, Margje Sinnema³, Bianca Panis¹, Joost Nicolai⁴, Estela Rubio-Gozalbo^{1

3}

Affiliations

¹ Mosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
² Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, 2650 Edegem, Antwerp, Belgium.
³ Department of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
⁴ Department of Neurology, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

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.

Keywords: D-glycerate-2-kinase deficiency; D-glyceric aciduria; GLYCTK.