Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12098-023-04718-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
BMC Musculoskelet Disord
December 2024
Physical medicine & rehabilitation research center, School of medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.
Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.
Background: Hepatic glycogen storage diseases (GSDs) are characterised by enzyme defects affecting liver glycogen metabolism, where carbohydrate supplementation to prevent overnight hypoglycaemia is common. Concerns around sleep quality in hepatic GSDs relate to emerging evidence that overnight dysglycaemia impacts sleep quality.
Methods: This prospective observational study reported sleep quality and duration in children with hepatic GSDs over 7 days utilising: actigraphy (Actiwatch 2 by Phillips Respironics), sleep diaries, proxy reported age-appropriate sleep and quality-of-life (QoL) questionnaires, in the context of nocturnal glycaemic profiles continuous glucose monitor (CGM, Dexcom G6) and nocturnal dietary management strategies.
Glycogenin is dispensable for normal liver glycogen metabolism and body glucose homeostasis.
Int J Biol Macromol
December 2024
Institut Químic de Sarrià (IQS), Universitat Ramon Llull (URL), Barcelona 08017, Spain; Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology, Barcelona 08028, Spain.
Glycogen is a glucose-storage polysaccharide molecule present in animals, fungi and bacteria. The enzyme glycogenin can self-glycosylate, forming an oligosaccharide chain that primes glycogen synthesis. This priming role of glycogenin was first believed to be essential for glycogen synthesis, but glycogen was then found in the skeletal muscle, heart, liver and brain of glycogenin-knockout mice (Gyg KO), thereby showing that glycogen can be synthesized without glycogenin.
View Article and Find Full Text PDFGlycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Orphanet J Rare Dis
December 2024
Assistant Professor of Cellular and Molecular Medicine, Shiraz Transplant Research Center, Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran.
Glycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG), respectively. Despite progress in understanding these diseases, there are still unclear questions regarding their clinical manifestations, genetic variations, and the relationship between genotype and phenotype.
View Article and Find Full Text PDFGlycogen Storage Disease Type IIIa: A Rare Cause of Myocardial Hypertrophy with Multisystem Involvement.
Eur Heart J Cardiovasc Imaging
December 2024
Department of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College. Beilishi Road No.167,Xicheng District, Beijing 100037,China.
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!