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Lysosomal storage diseases

R D Jolly

    Neuropathology and Applied Neurobiology
    |November 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Lysosomal storage diseases often impact the central nervous system. While genetic enzyme deficiencies cause primary disorders, some lipopigment accumulation diseases involve secondary storage, with limited therapy options currently available.

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    Area of Science:

    • Neurology
    • Genetics
    • Biochemistry

    Background:

    • Most lysosomal storage diseases (LSDs) affect the central nervous system (CNS).
    • Primary LSDs stem from genetic enzyme deficiencies, leading to substrate accumulation.
    • Ceroid-lipofuscinoses involve autofluorescent lipopigment accumulation, with secondary lysosomal storage.

    Purpose of the Study:

    • To summarize the nature of lysosomal storage diseases, particularly those affecting the CNS.
    • To differentiate primary genetic LSDs from secondary storage conditions like ceroid-lipofuscinoses.
    • To discuss current management and therapeutic prospects for LSDs.

    Main Methods:

    • Review of existing literature on lysosomal storage diseases.
    • Classification of LSDs based on primary or secondary lysosomal involvement.

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  • Analysis of pathological similarities between human genetic and animal toxic storage diseases.

    • Main Results:

    • Lysosomal storage diseases predominantly affect the CNS.
    • Genetic deficiencies cause primary LSDs, while ceroid-lipofuscinoses represent secondary storage.
    • Toxic storage diseases in animals can mimic human genetic LSDs.

    Conclusions:

    • Control strategies for LSDs include heterozygote detection and prenatal diagnosis.
    • The outlook for specific therapies for these conditions is currently not promising.
    • Further research into the mechanisms of LSDs is warranted.