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). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in the development of IR. Mitochondrial dysfunction can demonstrate abnormalities in plama acylcarnitines (ACs) and urine organic acids (UOA). The aim of the study was to investigate the presence of mitochondrial impairment in GSDI patients and its possible connection with IR.
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? / Rossi, A; Ruoppolo, M; Formisano, P; Villani, G; Albano, L; Gallo, G; Crisci, D; Moccia, A; Parenti, G; Strisciuglio, P; Melis, D.. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 1573-2665. - 41:6(2018), pp. 985-995. [10.1007/s10545-018-0149-4]
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Rossi A;Ruoppolo MWriting – Original Draft Preparation
;Formisano P;Villani GInvestigation
;Parenti GWriting – Original Draft Preparation
;Strisciuglio PWriting – Original Draft Preparation
;
2018
Abstract
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). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in the development of IR. Mitochondrial dysfunction can demonstrate abnormalities in plama acylcarnitines (ACs) and urine organic acids (UOA). The aim of the study was to investigate the presence of mitochondrial impairment in GSDI patients and its possible connection with IR.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
