ArticleOrphanet journal of rare diseases2020
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 38 citations in OpenAlex.
- Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.Scientific reports · 2025Article
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- Contribution of local regeneration of glucocorticoids to tissue steroid pools.The Journal of endocrinology · 2023Article
- Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia.Genes & nutrition · 2023Article
- Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders.World journal of gastroenterology · 2023Review
- Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.Frontiers in endocrinology · 2023Review
- Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.Nutrients · 2021Review
- Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.Italian journal of pediatrics · 2021Article
- Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.Journal of inherited metabolic disease · 2021Article
- Possible mechanisms of the hypoglycaemic effect of artesunate: Gender implication.Metabolism open · 2021Article
- An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.Frontiers in endocrinology · 2021Review
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10 authors at 3 institutions in 1 country.
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Abstract
backgroundGlycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) availability has been shown to modulate 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme catalyzing the local conversion of inactive cortisone into active cortisol. Adrenal cortex assessment has never been performed in GSDI. The aim of the current study was to evaluate the adrenal cortex hormones levels in GSDI patients.
methodsSeventeen GSDI (10 GSDIa and 7 GSDIb) patients and thirty-four age and sex-matched controls were enrolled. Baseline adrenal cortex hormones and biochemical markers of metabolic control serum levels were analyzed. Low dose ACTH stimulation test was also performed.
resultsBaseline cortisol serum levels were higher in GSDIa patients (p = 0.042) and lower in GSDIb patients (p = 0.041) than controls. GSDIa patients also showed higher peak cortisol response (p = 0.000) and Cortisol AUC (p = 0.029). In GSDIa patients, serum cholesterol (p = 0.000), triglycerides (p = 0.000), lactate (p = 0.000) and uric acid (p = 0.008) levels were higher and bicarbonate (p = 0.000) levels were lower than controls. In GSDIb patients, serum cholesterol levels (p = 0.016) were lower and lactate (p = 0.000) and uric acid (p = 0.000) levels were higher than controls. Baseline cortisol serum levels directly correlated with cholesterol (ρ = 0.65, p = 0.005) and triglycerides (ρ = 0.60, p = 0.012) serum levels in GSDI patients.
conclusionsThe present study showed impaired cortisol levels in GSDI patients, with opposite trend between GSDIa and GSDIb. The otherwise preserved adrenal cortex function suggests that this finding might be secondary to local deregulation rather than hypothalamo-pituitary-adrenal axis dysfunction in GSDI patients. We hypothesize that 11βHSD1 might represent the link between endocrine regulation and metabolic derangement in GSDI, constituting new potential therapeutic target in GSDI patients.
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