ReviewEuropean journal of pediatrics2014
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Review in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Pooled it
- 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 disorder types IX: the mutation spectrum and ethnic distribution.Orphanet journal of rare diseases · 2024Review
- Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.Molecular genetics and metabolism · 2024Article
- Predictive Role of Cluster Bean (Genes · 2024Article
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- Identification and validation of a five-gene prognostic signature based on bioinformatics analyses in breast cancer.Heliyon · 2023Article
- 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
- Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.Molecular genetics & genomic medicine · 2020Article
- 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
- Development of diagnostic SCAR markers for genomic DNA amplifications in breast carcinoma by DNA cloning of high-GC RAMP-PCR fragments.Oncotarget · 2017Article
- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.JIMD reports · 2017Article
- Nrf2-Mediated Regulation of Skeletal Muscle Glycogen Metabolism.Molecular and cellular biology · 2016Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of cases of GSD IX are attributed to defects in PHKA2 which usually cause a mild disease. We report three patients with PHKG2-related GSD IX presenting with significant hepatic involvement, fibrosis, and cirrhosis. Interestingly, the homozygosity mapping resolved a dilemma about an erroneously normal phosphorylase kinase activity in patient 1. The novel mutation found in all the three patients (p.G220E) affects the catalytic subunit of the phosphorylase kinase. Increasing evidence shows that patients with PHKG2 mutations have a severe hepatic phenotype within the heterogeneous GSD IX disorder. Therefore, defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis.
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