ArticleJournal of inherited metabolic disease2007
High frequency of missense mutations in glycogen storage disease type VI.
Article in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 58 citations in OpenAlex.
- Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.Molecular genetics and metabolism reports · 2026Article
- Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.European journal of clinical nutrition · 2025Article
- Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.PloS one · 2025Article
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- Clinical and genetic spectrum of GSD type 6 in Korea.Orphanet journal of rare diseases · 2023Article
- [Splicing abnormalities caused by a novel mutation in theZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Article
- Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.Orphanet journal of rare diseases · 2022Article
- Features of chinese patients with sitosterolemia.Lipids in health and disease · 2022Review
- Review
- Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.Diagnostics (Basel, Switzerland) · 2021Article
- Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.International journal of molecular sciences · 2020Review
- Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.BMC medical genetics · 2020Article
- Glycogen storage disease type VI: clinical course and molecular background.European journal of pediatrics · 2020Observational
- Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI.Hepatology communications · 2019Article
- Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.British journal of cancer · 2017Article
- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.JIMD reports · 2017Article
- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.JIMD reports · 2016Article
- Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.Pediatric gastroenterology, hepatology & nutrition · 2015Article
- Chromosomal instability in rodents caused by pollution from Baikonur cosmodrome.Ecotoxicology (London, England) · 2014Article
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Authors and funding
9 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deficiency of liver glycogen phosphorylase in glycogen storage disease (GSD) type VI results in a reduced ability to mobilize glucose from glycogen. Six mutations of the PYGL gene, which encodes the liver isoform of the enzyme, have been identified in the literature. We have characterized eight patients from seven families with GSD type VI and identified 11 novel PYGL gene defects. The majority of the mutations were missense, resulting in the substitution of highly conserved residues. These could be grouped into those that were predicted to affect substrate binding (p.V456M, p.E673K, p.S675L, p.S675T), pyridoxal phosphate binding (p.R491C, p.K681T), or activation of glycogen phosphorylase (p.Q13P) or that had an unknown effect (p.N632I and p.D634H). Two mutations were predicted to result in null alleles, p.R399X and [c.1964_1969inv6;c.1969+1_+4delGTAC]. Only 7 of the 23 (30%) reported PYGL alleles carry nonsense, splice site or frameshift mutations compared to 68-80% of affected alleles of the highly homologous muscle glycogen phosphorylase gene, PYGM, that underlie McArdle disease. There was heterogeneity in the clinical symptoms observed in affected individuals. These varied from hepatomegaly and subclinical hypoglycaemia, to severe hepatomegaly with recurrent severe hypoglycaemia and postprandial lactic acidosis. We conclude that deficiency of liver glycogen phosphorylase is predominantly the result of missense mutations affecting enzyme activity. There are no common mutations and the severity of clinical symptoms varies significantly.
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