Mitochondrial dysfunction in children with hepatic forms of glycogen storage disease

• Published in: Vestnik Rossiĭskoĭ akademii medits︠i︡nskih nauk no. 7-8; p. 78
• Main Authors: Kurbatova, O V, Izmaĭlova, T D, Surkov, A N, Namazova-Baranova, L S, Poliakova, S I, Miroshkina, L V, Semenova, G F, Samokhina, I V, Kapustina, E Iu, Dukhova, Z N, Potapov, A S, Petrichuk, S V
• Format: Journal Article
• Language: Russian
• Published: Russia (Federation) 2014
• Subjects: Carbohydrate Metabolism; Child; Cytological Techniques - methods; Female; Glycogen Storage Disease Type I - diagnosis; Glycogen Storage Disease Type I - metabolism; Glycogen Storage Disease Type I - physiopathology; Glycogen Storage Disease Type III - diagnosis; Glycogen Storage Disease Type III - metabolism; Glycogen Storage Disease Type III - physiopathology; Glycogen Storage Disease Type VI - diagnosis; Glycogen Storage Disease Type VI - metabolism; Glycogen Storage Disease Type VI - physiopathology; Humans; Liver - metabolism; Liver - pathology; Liver - physiopathology; Lymphocytes - metabolism; Male; Mitochondria - metabolism; Oxidoreductases - analysis; Oxidoreductases - classification; Oxidoreductases - metabolism; Severity of Illness Index; Statistics as Topic
• ISSN: 0869-6047
• DOI: 10.15690/vramn.v69i7-8.1112

The purpose of the study was to assess mitochondrial dysfunction severity in patients with hepatic forms of glycogen storage disease (GSD). We examined 53 children with GSD in the dynamics. Distribution of children by disease types was: 1st group--children with GSD type I, 2nd group--children with GSD type III, 3rd group--children with GSD type VI and IX; comparison group consisted of 34 healthy children. Intracellular dehydrogenases activity: succinate dehydrogenase (SDH), glycerol-3-phosphate-dehydrogenase (GPDH). nicotinamideadenin-H-dehydrogenase (NADH-D) and lactatdehydrogenase (LDH) was measured using the quantitative cytochemical method in the peripheral lymphocytes. It was revealed decrease of SDH- (p < 0.001) and GPDH-activities (p < 0.001), along with increase of the NADH-D activity (p < 0.05) in all patients with GSD, (SDH/ NADH-D) index was decreased (p < 0.001). LDH activity was increased in groups 1 (p < 0.05) and 3 (p < 0.01), compared with comparison group. The most pronounced intracellular enzymes activity deviations were observed in children with GSD type I, that correspond to more severe clinical form of GSD. It was found strong correlation between intracellular enzymes activity and both hepatomegaly level (R = 0.867) and metabolic acidosis severity (R = 0.987). Our investigation revealed features of mitochondrial dysfunction in children with GSD, depending on the GSD type. Activities of lymphocytes enzymes correlates with the main disease severity parameters and can be used as an additional diagnostic criteria in children with hepatic form of GSD.