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?

Sandra D. K. Kingma^*
, Laura K. M. Steinbusch
, Sietse M. Aukema
, Margje Sinnema
, Bianca Panis
, Joost Nicolai
, Estela Rubio-Gozalbo

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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
Article number	101159
Number of pages	3
Journal	Molecular Genetics and Metabolism Reports
Volume	41
DOIs	https://doi.org/10.1016/j.ymgmr.2024.101159
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

Access to Document

10.1016/j.ymgmr.2024.101159Licence: CC BY

Cite this

@article{5517e4d805ff4a3d83a96a2d63d0bf05,

title = "D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?",

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-glyceric aciduria, GLYCTK, D-glycerate-2-kinase deficiency, FRUCTOSE METABOLISM, KINASE-DEFICIENCY, INBORN ERROR, ACIDEMIA, HYPERGLYCINEMIA, PATIENT",

author = "Kingma, \{Sandra D. K.\} and Steinbusch, \{Laura K. M.\} and Aukema, \{Sietse M.\} and Margje Sinnema and Bianca Panis and Joost Nicolai and Estela Rubio-Gozalbo",

year = "2024",

month = dec,

day = "1",

doi = "10.1016/j.ymgmr.2024.101159",

language = "English",

volume = "41",

journal = "Molecular Genetics and Metabolism Reports",

issn = "2214-4269",

publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - D-glyceric aciduria due to GLYCTK mutation

T2 - Disease or non-disease?

AU - Kingma, Sandra D. K.

AU - Steinbusch, Laura K. M.

AU - Aukema, Sietse M.

AU - Sinnema, Margje

AU - Panis, Bianca

AU - Nicolai, Joost

AU - Rubio-Gozalbo, Estela

PY - 2024/12/1

Y1 - 2024/12/1

N2 - 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.

AB - 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.

KW - D-glyceric aciduria

KW - GLYCTK

KW - D-glycerate-2-kinase deficiency

KW - FRUCTOSE METABOLISM

KW - KINASE-DEFICIENCY

KW - INBORN ERROR

KW - ACIDEMIA

KW - HYPERGLYCINEMIA

KW - PATIENT

U2 - 10.1016/j.ymgmr.2024.101159

DO - 10.1016/j.ymgmr.2024.101159

M3 - Article

SN - 2214-4269

VL - 41

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

M1 - 101159

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this