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Metabolic myopathies.

S DiMauro, A F Miranda, S Sakoda

    American Journal of Medical Genetics
    |December 1, 1986
    PubMed
    Summary
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    This review covers glycogen storage diseases and mitochondrial myopathy, highlighting their diverse clinical and biochemical presentations. It emphasizes tissue-specific isozymes and molecular genetic insights into these conditions.

    Area of Science:

    • Biochemistry
    • Genetics
    • Molecular Biology

    Background:

    • Glycogen storage diseases (GSDs) and mitochondrial myopathies are inherited metabolic disorders affecting energy production.
    • Deficiencies in key enzymes lead to distinct clinical and biochemical phenotypes.
    • Understanding these disorders provides insights into fundamental cellular processes.

    Purpose of the Study:

    • To review six types of glycogen storage diseases and one mitochondrial myopathy.
    • To illustrate clinical and biochemical heterogeneity within these groups.
    • To highlight evidence for tissue-specific isozymes and developmental control, supported by molecular genetic studies.

    Main Methods:

    • Literature review of GSDs and mitochondrial myopathy.
    • Analysis of clinical and biochemical data from affected individuals.

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  • Examination of molecular genetic findings related to enzyme deficiencies.

    • Main Results:

    • Six GSDs (acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, lactate dehydrogenase deficiencies) and one mitochondrial myopathy (cytochrome c oxidase deficiency) were reviewed.
    • Significant clinical and biochemical heterogeneity was observed across the studied diseases.
    • Evidence supports the role of tissue-specific and developmentally regulated isozymes in disease manifestation.

    Conclusions:

    • GSDs and mitochondrial myopathies exhibit considerable heterogeneity.
    • Isozyme variations and developmental regulation play crucial roles in disease presentation.
    • Molecular genetics is essential for understanding the underlying mechanisms of these metabolic disorders.