Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance with a "second wind" phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the gene the common c.148C > T [p.(Arg50*)] variant and a missense variant in exon 12, c.1471C > T [p.(Arg491Cys)]. GSD 5 and Pompe disease are both glycogen storage diseases in which axial involvement has been described. Although probably underestimated, severe axial myopathy has been rarely reported in GSD 5. We suggest that the long-lasting symptoms associated with camptocormia should be considered as possible initial features of GSD 5.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11840530 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2025.101197 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Glucose and energy metabolism are impaired in mice deficient for orexins.
J Endocrinol
March 2025
M Picot, U1239, INSERM, Rouen, France.
The present study aims to investigate the impact of orexin deficiency on the regulation of energy and glucose metabolism using a mouse model depleted for the prepro-orexin gene. Our data reveal that, despite a decrease of food consumption (at least in males), orexin deficiency induces a significant increase in body weight that is associated with an alteration of the body composition, as males and females orexin deficient mice display an increased fat mass compared to the wild-type littermates. Nevertheless, no significant differences of global energy expenditure and locomotor activity were observed in the mutant mice relative to the control.
View Article and Find Full Text PDFThe Glutamate/GABA-Glutamine Cycle: Insights, Updates, and Advances.
J Neurochem
March 2025
Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Synaptic homeostasis of the principal neurotransmitters glutamate and GABA is tightly regulated by an intricate metabolic coupling between neurons and astrocytes known as the glutamate/GABA-glutamine cycle. In this cycle, astrocytes take up glutamate and GABA from the synapse and convert these neurotransmitters into glutamine. Astrocytic glutamine is subsequently transferred to neurons, serving as the principal precursor for neuronal glutamate and GABA synthesis.
View Article and Find Full Text PDFLiver fibrosis negatively impacts in vivo gene transfer to murine hepatocytes.
Nat Commun
March 2025
San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Liver fibrosis occurs in several genetic and acquired disease conditions, leading to alterations of the tissue and metabolism, which may adversely affect viral vector-mediated gene therapy. Here, we assessed the impact of liver fibrosis on in vivo gene transfer to hepatocytes mediated by lentiviral vectors or adeno-associated viral vectors. We exploited two chemically induced fibrosis mouse models characterized by tissue damage in different areas of the liver lobule.
View Article and Find Full Text PDFSafety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
J Inherit Metab Dis
March 2025
Ultragenyx Pharmaceutical Inc., Novato, California, USA.
Glycogen storage disease type Ia (GSDIa) is a rare, life-threatening, inherited carbohydrate metabolism disorder caused by glucose-6-phosphatase (G6Pase) deficiency, which is essential for glycogenolysis and gluconeogenesis. GSDIa management includes a strict medically prescribed diet that typically includes daily uncooked cornstarch doses, including overnight, to maintain euglycemia. DTX401 is an investigational adeno-associated virus serotype 8 vector expressing the human G6PC1 gene that encodes G6Pase.
View Article and Find Full Text PDFAstrocyte alterations during Osmotic Demyelination Syndrome: intermediate filaments, aggresomes, proteasomes, and glycogen storages.
Ultrastruct Pathol
March 2025
Department of Medicine, Laboratory of Neurodegeneration and Regeneration URPHyM, NARILIS, University of Namur, Namur, Belgium.
Introduction: A murine model mimicking the human osmotic demyelination syndrome (ODS) revealed with histology demyelinated alterations in the relay posterolateral (VPL) and ventral posteromedial (VPM) thalamic nuclei 12 h and 48 h after chronic hyponatremia due to a fast reinstatement of osmolality. Abnormal expression astrocyte markers ALDHL1 and GFAP with immunohistochemistry in these ODS altered zones, prompted aims to verify in both protoplasmic and fibrillar astrocytes with ultrastructure those changes and other associated subcellular modifications.
Method: This ODS investigation included four groups of mice: Sham (NN; = 13), hyponatremic (HN; = 11), those sacrificed 12 h after a fast restoration of normal natremia (ODS12h; = 6), and mice sacrificed 48 h afterward, or ODS48 h ( = 9).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!