ArticleMolecular genetics and metabolism2014
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Article in Molecular genetics and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Pooled it
- Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.Journal of inherited metabolic disease · 2026Observational
- Dietary and Therapeutic Management of Glycogen Storage Disease Type IX: Analysis of a Systematic Review.Children (Basel, Switzerland) · 2026Review
- Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.Molecular genetics and metabolism reports · 2026Article
- Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.Genetics in medicine open · 2026Article
- Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores.Genetics in medicine open · 2026Article
- Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.Orphanet journal of rare diseases · 2025Article
- Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.Science advances · 2025Article
- Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.European journal of clinical nutrition · 2025Article
- Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.Molecular genetics and metabolism · 2024Article
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- [Splicing abnormalities caused by a novel mutation in theZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Article
- A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role forInternational journal of molecular sciences · 2022Article
- A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.BMC pediatrics · 2022Article
- Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.PloS one · 2022Article
- Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2Molecular genetics and metabolism · 2021Article
- Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.Scientific reports · 2021Article
- Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management.Archives of medical science : AMS · 2021Article
- Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.Molecular genetics and metabolism · 2020Article
- Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. Clinical severity varies widely. Autosomal recessive mutations in the PHKG2 gene, which cause about 10-15% of cases, have been associated with severe symptoms including increased risk of liver cirrhosis in childhood. We have summarized the molecular, biochemical, and clinical findings in five patients, age 5-16 years, diagnosed with liver PhK deficiency caused by PHKG2 gene mutations. We have identified five novel and two previously reported mutations in the PHKG2 gene in these five patients. Clinical severity was variable among these patients. Histopathological studies were performed for four of the patients on liver biopsy samples, all of which showed signs of fibrosis but not cirrhosis. One of the patients (aged 9 years) developed a liver adenoma which later resolved. All patients are currently doing well. Their clinical symptoms have improved with age and treatment. These cases add to the current knowledge of clinical variability in patients with PHKG2 mutations. Long term studies, involving follow-up of these patients into adulthood, are needed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.