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[Mitochondrial dysfunction in children with hepatic forms of glycogen storage disease]

O V Kurbatova, T D Izmaĭlova, A N Surkov

    Vestnik Rossiiskoi Akademii Meditsinskikh Nauk
    |January 8, 2015
    PubMed

    Insights

    Mitochondrial dysfunction is evident in children with hepatic glycogen storage diseases (GSD). Lymphocyte enzyme activity correlates with GSD severity and can aid diagnosis.

    Area of Science:

    • Biochemistry
    • Pediatrics
    • Genetics

    Context:

    • Glycogen storage diseases (GSD) are inherited metabolic disorders affecting glycogen metabolism.
    • Hepatic forms of GSD often lead to significant liver dysfunction and metabolic complications.
    • Mitochondrial dysfunction is increasingly recognized as a contributing factor in various metabolic diseases.

    Purpose:

    • To evaluate the severity of mitochondrial dysfunction in pediatric patients with hepatic glycogen storage diseases (GSD).
    • To investigate specific enzyme activities in lymphocytes as indicators of mitochondrial dysfunction in GSD.
    • To correlate enzyme activity levels with clinical parameters of disease severity.

    Summary:

    • This study analyzed lymphocyte enzyme activities (succinate dehydrogenase, glycerol-3-phosphate-dehydrogenase, nicotinamide adenine dinucleotide hydrogenase, lactate dehydrogenase) in 53 children with GSD (types I, III, VI, IX) and 34 healthy controls.
    • Significant alterations in enzyme activities, including decreased SDH and GPDH and increased NADH-D, were observed in all GSD patients.
    • The most pronounced changes were noted in GSD type I, correlating strongly with hepatomegaly and metabolic acidosis severity.

    Impact:

    • Identifies specific patterns of mitochondrial dysfunction in different types of hepatic GSD.
    • Suggests that lymphocyte enzyme activity can serve as a valuable additional diagnostic marker for hepatic GSD.
    • Provides insights into the biochemical basis of GSD severity and potential therapeutic targets.
    Abstract

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