SynthesisGenes2025
Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.
Synthesis in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- 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
- Dietary and Therapeutic Management of Glycogen Storage Disease Type IX: Analysis of a Systematic Review.Children (Basel, Switzerland) · 2026Review
- Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.Journal of clinical medicine · 2026Review
- Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.Molecular genetics and metabolism reports · 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
- 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
- PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.NPJ genomic medicine · 2025Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
objectivesGlycogen storage disease type IX (GSD IX) is a group of inherited metabolic disorders caused by phosphorylase kinase deficiency affecting the liver or muscle. Despite being relatively common among GSDs, GSD IX remains underexplored.
methodsA systematic review of GSD IX was conducted per PRISMA guidelines using SCOPUS and PubMed, registered with PROSPERO. Inclusion focused on human clinical studies published up to 31 December 2024.
resultsA total of 400 patients with GSD IX were analyzed: 274 IXa (mean age at diagnosis 5.1 years), 72 IXc (mean age at diagnosis 4.9 years), 39 IXb (mean age at diagnosis 4.2 years), and 15 IXd (mean age at diagnosis 44.9 years). Hepatomegaly was commonly reported in types IXa, IXb, and especially IXc (91.7%), but was rare in IXd. Elevated transaminases were frequently observed in types IXa, IXb, and particularly IXc, while uncommon in IXd. Fasting hypoglycemia was occasionally observed in types IXa and IXb, more frequently in IXc (52.7%), and was not reported in IXd. Growth delay or short stature was observed in a substantial proportion of patients with types IXa (43.8%), IXb, and IXc, but was rare in IXd. Muscle involvement was prominent in IXd, with all patients showing elevated CPK (mean 1011 U/L). Neurological involvement was infrequently reported in types IXa and IXc.
conclusionsThis systematic review includes the most extensive clinical case history of GSD IX described in the literature. The clinical spectrum of GSD IX varies widely among subtypes, with IXc being the most aggressive. While liver forms are generally present in early childhood, muscle-type IXd shows delayed onset and milder symptoms, often leading to diagnostic delays. For diagnosis, it is essential not to underestimate key clinical features such as hepatic involvement and hypoglycemia in a child under 5 years of age. Other manifestations, including the as-yet unexplored systemic involvement of bone and kidney, remain insufficiently understood and require further investigation. Next-generation sequencing has improved diagnostic precision over traditional biopsy. Dietary management, including uncooked cornstarch, Glycosade
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