Pediatrics & Therapeutics
Open Access
ISSN: 2161-0665
+44 1478 350008
ISSN: 2161-0665
+44 1478 350008
Daniela Melis
Azienda Ospedaliera Universitaria Federico II, Italy
Posters-Accepted Abstracts: Pediat Therapeut
Introduction: Glycogen 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). It has been shown that Glucose 6-Phosphate (G6P) availability modulates 11�?²-Hydroxysteroid Dehydrogenase type 1 (11�?²HSD1) activity, an ER-bound enzyme catalyzing the conversion of cortisone in cortisol. A possible role of 11�?²HSD1 in the development of the Metabolic Syndrome (MS) has been reported. Objectives: The aim of the current study was to evaluate the prevalence of MS and the adrenal cortex function and in GSDIa and GSD1b patients. Methods: Seventeen GSDI (10 GSDIa and 7 GSDIb) patients were enrolled. The prevalence of MS and Insulin-Resistance (IR) was evaluated. Adrenal cortex function and biochemical markers of metabolic control were also analyzed. Results: GSDIa patients showed higher HOMA-IR (7.36�?±2.13 vs. 1.90�?±0.13, p=0.00 vs. 1.97�?±0.40, p=0.05) and cortisol serum levels (165.10 ng/mL �?± 15.13 vs. 127.70 ng/mL �?± 7.00, p=0.01 vs. 83.46 ng/mL �?± 21.52, p=0.00) than controls and GSDIb patients. GSDIb showed decreased cortisol serum levels compared to controls (83.46 ng/mL �?± 21.52 vs. 138.43�?±14.39, p=0.04). Conclusions: Our data showed the presence of increased risk of IR and MS in GSDIa patients. We also found impaired cortisol metabolism, with opposite features in GSDIa and GSDIb patients. 11�?²HSD1 regulation may explain the differences between GSDIa and GSDIb patients. We suggest a routine metabolic assessment in the management of GSDI patients.
Email: daniela.melis@unina.it