ArticleOrphanet journal of rare diseases2022
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 17 citations in OpenAlex.
- Continuous Glucose Monitoring in Glycogen Storage Diseases: A Systematic Review of Clinical Utility, Accuracy and Patient Outcomes.Endocrinology, diabetes & metabolism · 2026Pooled it
- Pooled it
- Navigating Glycogen Storage Disease: The Spiritual and Cultural Journeys of Jordanian Mothers.Journal of religion and health · 2026Article
- Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.Molecular genetics and metabolism reports · 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
- Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study.BMC pediatrics · 2025Article
- Clinical features and rare complications in 132 patients with hepatic glycogenosis.Orphanet journal of rare diseases · 2025Article
- Interaction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.Disease models & mechanisms · 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
- Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.World journal of clinical pediatrics · 2024Article
- 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
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Authors and funding
8 authors at 4 institutions in 1 country.
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Abstract
backgroundGlycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients with GSD type 0a, VI, IXa, IXb and IXc. A retrospective evaluation of genetical, auxological and endocrinological data, biochemical tests, and nutritional intakes was assessed. Eventual findings of overweight/obesity and insulin-resistance were correlated with diet composition.
resultsSix GSD-0a, 1 GSD-VI, and 23 GSD-IX patients were enrolled, with an age of presentation from 0 to 72 months (median 14 months). Diagnosis was made at a median age of 30 months, with a median diagnostic delay of 11 months and a median follow-up of 66 months. From first to last visit, patients gained a median height of 0.6 SDS (from - 1.1 to 2.1 SDS) and a median weight of 0.5 SDS (from - 2.5 to 3.3 SDS); mean and minimal glucose values significant improved (p < 0.05). With respect to dietary intakes, protein intake (g/kg) and protein intake (g/kg)/RDA ratio directly correlated with the glucose/insulin ratio (p < 0.05) and inversely correlated with HOMA-IR (Homeostasis model assessment of insulin resistance, p < 0.05), BMI SDS (p < 0.05) and %ibw (ideal body weight percentage, p < 0.01).
conclusionA prompt establishment of specific nutritional therapy allowed to preserve growth, improve glycemic control and prevent liver complication, during childhood. Remarkably, the administration of a high protein diet appeared to have a protective effect against overweight/obesity and insulin-resistance.
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