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

Molecular Genetics and Metabolism Reports (Dec 2024)

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

Affiliations

Sandra D.K. Kingma: Mosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, 2650 Edegem, Antwerp, Belgium; Corresponding author at: Mosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Laura K.M. Steinbusch: Department of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
Sietse M. Aukema: Department of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
Margje Sinnema: Department of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
Bianca Panis: Mosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
Joost Nicolai: Department of Neurology, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
Estela Rubio-Gozalbo: Mosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands

Journal volume & issue: Vol. 41
p. 101159

Abstract

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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.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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Abstract

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