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Related Experiment Videos

Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

R J Desnick, H L Sharp, G A Grabowski

    Pediatric Research
    |December 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

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    Mannosidosis is a lysosomal storage disease caused by alpha-mannosidase deficiency. This study shows enzymatic diagnosis is possible and reveals immune system abnormalities in patients, suggesting potential therapeutic roles for zinc and cobalt.

    Area of Science:

    • Biochemistry
    • Genetics
    • Immunology

    Background:

    • Mannosidosis is a rare genetic disorder characterized by a deficiency in acidic alpha-mannosidase enzyme activity.
    • This deficiency leads to the lysosomal accumulation of mannose-rich oligosaccharides, causing cellular dysfunction.
    • The primary metabolic defect impacts various tissues, including liver, leukocytes, and plasma.

    Observation:

    • Enzymatic diagnosis of mannosidosis homozygotes is reliably achievable using plasma, leukocytes, or fibroblasts.
    • Mannosidosis patients exhibit significant neutrophil dysfunction, including impaired chemotaxis and phagocytosis.
    • Lymphocyte transformation responses to mitogens are notably reduced in individuals with mannosidosis.

    Findings:

    • Ion exchange chromatography and electrophoresis revealed distinct alpha-mannosidase isozyme patterns in normal versus mannosidosis liver.

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  • Residual acidic alpha-mannosidase activity in mannosidosis patients shows significantly higher Km values, indicating altered substrate affinity.
  • Zinc and cobalt ions differentially affect alpha-mannosidase activity, with cobalt showing a notable Km reduction in mannosidosis liver extracts.

    • Implications:

    • The findings support the utility of enzymatic assays for diagnosing mannosidosis and assessing disease severity.
    • Abnormalities in immune cell function highlight the systemic impact of mannosidosis beyond metabolic defects.
    • Differential modulation of residual enzyme activity by zinc and cobalt suggests potential therapeutic strategies for mannosidosis.