| Autor: |
ROSSI, ALESSANDRO, RUOPPOLO, MARGHERITA, FORMISANO, PIETRO, VILLANI, GUGLIELMO ROSARIO DOMENI, PARENTI, GIANCARLO, STRISCIUGLIO, PIETRO, MELIS, DANIELA, Albano, L., Gallo, G., Moccia, A. |
| Přispěvatelé: |
SSIEM (Society for the study of Inborn Errors of Metabolism), Rossi, Alessandro, Ruoppolo, Margherita, Formisano, Pietro, Villani, GUGLIELMO ROSARIO DOMENI, Albano, L., Gallo, G., Moccia, A., Parenti, Giancarlo, Strisciuglio, Pietro, Melis, Daniela |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| Popis: |
Background: 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 recently shown that GSDIa patients are at higher risk for developing metabolic syndrome and insulin-resistance (IR). A possible role of mitochondrial dysfunction in developing IR has been proposed. Mitochondrial disorders are traditionally investigated by plasma acylcanitines (ACs) and urine organic acids (UOA) profiles. The aim of the present study was to analyze the molecules of intermediary metabolism to determine whether an alteration of mitochondrial function exists in GSDI patients and its possible role in IR. Methods. 13 GSDIa and 7 GSDIb patients, 26 and 14 age and sex-matched controls, were enrolled. Plasma ACs, UOA and surrogate markers of IR were measured. Results: GSDIa patients showed higher short-chain ACs (C0, C2, C3,C4, C6DC) and long-chain ACs (C14, C16, C16:1, C16OH, C18, C18OH) levels and urinary excretion of lactate, pyruvate, ethylmalonate, fumarate, malate, 3-methylglutaconate, 3-methylglutarate, suberate, aconitate, sebacate, 2-ketoglutarate, 4-octenedioate than controls (p < 0.05). GSDIb patients showed higher C0 and C4 levels than controls (p |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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