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D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?
Sandra D K Kingma1,2, Laura K M Steinbusch3, Sietse M Aukema3
1Mosakids Children's Hospital, 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.
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