Research & Literature

News on Clinical Details and Treatment in PGM1-CDG.

Schrapers E, Tegtmeyer LC, Simic-Schleicher G, et al.

JIMD reports 2016; (26()):77-84 doi:10.1007/8904_2015_471.

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.

van Scherpenzeel M, Steenbergen G, Morava E, et al.

Translational research : the journal of laboratory and clinical medicine 2015; (166(6)):639-649.e1.

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.

Loewenthal N, Haim A, Parvari R, Hershkovitz E

American journal of medical genetics. Part A 2015; (167A(12)):3139-43 doi:10.1002/ajmg.a.37294.

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.

Zeevaert R, Scalais E, Muino Mosquera L, et al.

Acta clinica Belgica 2016; (71(6)):435-437 doi:10.1080/17843286.2016.1142043.

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.

Voermans NC, Preisler N, Madsen KL, et al.

Neuromuscular disorders : NMD 2017; (27(4)):370-376 doi:10.1016/j.nmd.2017.01.014.

Oral D-galactose supplementation in PGM1-CDG.

Wong SY, Gadomski T, van Scherpenzeel M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(11)):1226-1235 doi:10.1038/gim.2017.41.

Limitations of galactose therapy in phosphoglucomutase 1 deficiency.

Nolting K, Park JH, Tegtmeyer LC, et al.

Molecular genetics and metabolism reports 2017; (13()):33-40 doi:10.1016/j.ymgmr.2017.07.010.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Preisler N, Cohen J, Vissing CR, et al.

Molecular genetics and metabolism 2017; (122(3)):117-121 doi:10.1016/j.ymgme.2017.08.007.

Mechanistic Insights on Human Phosphoglucomutase Revealed by Transition Path Sampling and Molecular Dynamics Calculations.

Brás NF, Fernandes PA, Ramos MJ, Schwartz SD

Chemistry (Weinheim an der Bergstrasse, Germany) 2018; (24(8)):1978-1987 doi:10.1002/chem.201705090.

CDG Therapies: From Bench to Bedside.

Brasil S, Pascoal C, Francisco R, et al.

International journal of molecular sciences 2018; (19(5)) doi:10.3390/ijms19051304.

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

Yokoi K, Nakajima Y, Ohye T, et al.

JIMD reports 2019; (43()):85-90 doi:10.1007/8904_2018_108.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, et al.

Translational research : the journal of laboratory and clinical medicine 2018; (199()):62-76 doi:10.1016/j.trsl.2018.04.008.

Central nervous involvement is common in PGM1-CDG.

Radenkovic S, Witters P, Morava E

Molecular genetics and metabolism 2018; (125(3)):200-204 doi:10.1016/j.ymgme.2018.08.008.

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.

Wolking AB, Park JH, Grüneberg M, et al.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2019; (1106-1107()):64-70 doi:10.1016/j.jchromb.2019.01.004.

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.

Tian WT, Luan XH, Zhou HY, et al.

Neuromuscular disorders : NMD 2019; (29(4)):282-289 doi:10.1016/j.nmd.2019.01.001.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Radenkovic S, Bird MJ, Emmerzaal TL, et al.

American journal of human genetics 2019; (104(5)):835-846 doi:10.1016/j.ajhg.2019.03.003.

A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.

Balakrishnan B, Verheijen J, Lupo A, et al.

Journal of inherited metabolic disease 2019; (42(5)):998-1007 doi:10.1002/jimd.12110.

The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.

Fernlund E, Andersson O, Ellegård R, et al.

Forensic science international. Genetics 2019; (43()):102111 doi:10.1016/j.fsigen.2019.06.012.

[Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness].

Takenaka Y, Sekiguchi K, Sekiya H, et al.

Rinsho shinkeigaku = Clinical neurology 2020; (60(2)):152-156 doi:10.5692/clinicalneurol.cn-001375.

Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily.

Backe PH, Laerdahl JK, Kittelsen LS, et al.

Scientific reports 2020; (10(1)):5656 doi:10.1038/s41598-020-62548-0.

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

Francisco R, Pascoal C, Marques-da-Silva D, et al.

Journal of clinical medicine 2020; (9(7)) doi:10.3390/jcm9072092.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Altassan R, Radenkovic S, Edmondson AC, et al.

Journal of inherited metabolic disease 2021; (44(1)):148-163 doi:10.1002/jimd.12286.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Conte F, Morava E, Bakar NA, et al.

Molecular genetics and metabolism 2020; (131(1-2)):135-146 doi:10.1016/j.ymgme.2020.08.003.

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.

Donoghue SE, White SM, Tan TY, et al.

JIMD reports 2021; (57(1)):29-37 doi:10.1002/jmd2.12177.

A new D-galactose treatment monitoring index for PGM1-CDG.

Perales-Clemente E, Liedtke K, Studinski A, et al.

Journal of inherited metabolic disease 2021; (44(5)):1263-1271 doi:10.1002/jimd.12406.

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).

Balakrishnan B, Altassan R, Budhraja R, et al.

Translational research : the journal of laboratory and clinical medicine 2023; (257()):1-14 doi:10.1016/j.trsl.2023.01.004.

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).

Altassan R, Albert-Brotons DC, Alowain M, et al.

JIMD reports 2023; (64(2)):123-128 doi:10.1002/jmd2.12350.

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.

Radenkovic S, Johnsen C, Schulze A, et al.

Therapeutic advances in rare disease 2023; (4()):26330040221150269 doi:10.1177/26330040221150269.

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Zemet R, Hope KD, Edmondson AC, et al.

Molecular genetics and metabolism 2024; (142(4)):108513 doi:10.1016/j.ymgme.2024.108513.

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Radenkovic S, Bleukx S, Engelhardt N, et al.

Molecular genetics and metabolism 2024; (142(4)):108530 doi:10.1016/j.ymgme.2024.108530.

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Radenkovic S, Adant I, Bird MJ, et al.

Cells 2025; (14(9)) doi:10.3390/cells14090638.

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome.

Uçaktürk SA, Özer E, Ceylan AC, Mengen E

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(2)):199-203 doi:10.1515/jpem-2025-0447.

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.

Al-Ahmari AA

The American journal of case reports 2025; (26()):e948797 doi:10.12659/AJCR.948797.

Pregnancy in a Woman with PGM1-CDG: Longitudinal Metabolic Follow-up During a Lactose-Supported Diet.

Akyüzlüer Güneş MS, Koç Yekedüz M, Sürücü Kara İ, et al.

Journal of clinical research in pediatric endocrinology 2026; doi:10.4274/jcrpe.galenos.2026.2026-7-12.