ArticleMolecular genetics and metabolism2020
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Article in Molecular genetics and metabolism, 2020. 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, 40 citations in OpenAlex.
- Pooled it
- RNA sequencing resolves a novel noncanonical splice-region variant inTranslational pediatrics · 2026Article
- Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.Journal of inherited metabolic disease · 2026Observational
- 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
- Hypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency.Journal of lipid and atherosclerosis · 2026Article
- Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.Orphanet journal of rare diseases · 2025Article
- Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.Hormones (Athens, Greece) · 2025Review
- Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.Science advances · 2025Article
- Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum.World journal of clinical pediatrics · 2025Article
- Clinical features and rare complications in 132 patients with hepatic glycogenosis.Orphanet journal of rare diseases · 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
- Oral Cornstarch and Glycyrrhizin Improve Severe Liver Injury Caused by Glycogen Storage Disease Type IXa.Cureus · 2025Article
- [Clinical analysis and follow-up outcomes of 25 pediatric cases with hepatic glycogen storage disease].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 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
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
introductionLiver Glycogen Storage Disease Type IX (GSD IX) is one of the most common forms of GSD. It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - α, β, γ, and δ - each with tissue specific isoforms encoded by different genes. Until the recent availability of gene panels and exome sequencing, the diagnosis of liver GSD IX did not allow for differentiation of these subtypes. This study presents the first comprehensive literature review for liver GSD IX subtypes - GSD IX α2, β, and γ2. We aim to better characterize the natural history of liver GSD IX and further investigate if there are subtype-specific differences in clinical presentation.
methodsA comprehensive literature review was performed with the help of a medical librarian at Duke University Medical Center to gather all published patients of liver GSD IX. Our refined search yielded 74 articles total. Available patient data were compiled into an excel spreadsheet. Data were analyzed via descriptive statistics. The number of patients with specific symptoms were individually summed and reported as a percentage of the total number of patients for which data were available or were averaged and reported as a mean numerical value. Published pathology reports were scored using the International Association of the Study of the Liver Scale.
resultsThere were a total of 183 GSD IX α2 patients, 17 GSD IX β patients, and 30 GSD IX γ2 patients. Average age at diagnosis was 4 years for GSD IX α2 patients, 2.34 years for GSD IX β patients, and 1.81 years for GSD IX γ2 patients. Hepatomegaly was reported in 164/176 (93.2%) of GSD IX α2 patients, 16/17 (94.1%) of GSD IX β patients, and 30/30 (100%) of GSD IX γ2 patients. Fasting hypoglycemia was reported in 53/121 (43.8%) of GSD IX α2 patients, 8/16 (50%) of GSD IX β patients, and 18/19 (94.7%) of GSD IX γ2 patients. Liver biopsy pathology reports were available and interpreted for 46 GSD IX α2 patients, 3 GSD IX β patients, and 24 GSD IX γ2 patients. 22/46 (47.8%) GSD IX α2 patients, 1/3 (33.3%) GSD IX β patients, and 23/24 (95.8%) GSD IX γ2 patients with available pathology reports documented either some degree of fibrosis or cirrhosis.
conclusionOur comprehensive review demonstrates quantitatively that the clinical presentation of GSD IX γ2 patients is more severe than that of GSD IX α2 or β patients. However, our study also shows the existence of a severe phenotype in GSD IX α2, evidenced by early onset liver pathology in conjunction with clinical symptoms. There is need for a more robust natural history study to better understand the variability in liver pathophysiology within liver GSD IX; in addition, further study of mutations and gene mapping could bring a better understanding of the relationship between genotype and clinical presentation.
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