The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, ( <scp>GSD0B</scp> )
Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular glycogen synthetase deficiency and has previously been identified as a cause of sudden cardiac arrest in childhood. Muscle biopsies of affected living relatives demonstrated a paucity of glycogen staining. We describe 10 individuals from seven families to document the evolution of cardiac disease in individuals identified through cascade testing. This study expands knowledge of the clinical phenotype of muscular GSD type 0 to include adult survivors with myopathy and further describes the natural history of cardiac manifestations.
Authors
- Sandra T. Cooper (ORCID: https://orcid.org/0000-0002-7314-5097)
- Maria Rosaria Iascone (ORCID: https://orcid.org/0000-0002-4707-212X)
- Lidia Pezzani (ORCID: https://orcid.org/0000-0002-4601-2985)
- Pontus Wasling (ORCID: https://orcid.org/0000-0002-9106-9032)
- Sabrina Vergnaud (ORCID: https://orcid.org/0000-0001-5283-4320)
- Dwight D. Koeberl (ORCID: https://orcid.org/0000-0003-4513-2464)
- É. Lagrange (ORCID: https://orcid.org/0000-0002-9844-0762)
- Adam Bournazos (ORCID: https://orcid.org/0000-0002-6464-4548)
- Terry G. J. Derks (ORCID: https://orcid.org/0000-0002-7259-1095)
- Pia Linton‐Dahlöf
- Smitha Kumble (ORCID: https://orcid.org/0000-0001-6605-3322)
- Zornitza Stark (ORCID: https://orcid.org/0000-0001-8640-1371)
- İlker Ertuğrul (ORCID: https://orcid.org/0000-0002-6607-0568)
- Yılmaz Yıldız (ORCID: https://orcid.org/0000-0001-9076-1388)
- Gittan Kollberg (ORCID: https://orcid.org/0000-0001-8226-5704)
- Lars Alberg
- Sarah Donoghue (ORCID: https://orcid.org/0000-0002-1189-5060)
Institutions
- The University of Sydney (AU)
- University Medical Center Groningen (NL)
- Children's Medical Research Institute (AU)
- The University of Melbourne (AU)
- University of Groningen (NL)
- Duke University (US)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Sahlgrenska University Hospital (SE)
- Women's and Children's Hospital (AU)
- Children's Hospital at Westmead (AU)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Region Västra Götaland (SE)
- Ospedale Papa Giovanni XXIII (IT)
- Victorian Clinical Genetics Services (AU)
- Murdoch Children's Research Institute (AU)
- Institut de Biologie Structurale (FR)
- Hacettepe University (TR)
- University of Gothenburg (SE)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2025-06-19
- DOI
- https://doi.org/10.1002/ajmg.a.64149
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Medical Research Council
- National Health and Medical Research Council