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Related Experiment Videos

Fabry's disease in a black kindred.

K J Sheth, T T Tang, T A Good

    American Journal of Diseases of Children (1960)
    |November 1, 1979
    PubMed
    Summary

    Fabry disease, an X-linked genetic disorder, affects males and females differently. This study details its varied clinical manifestations and enzyme deficiencies in a black family, highlighting key symptoms in affected males and carrier females.

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    Area of Science:

    • Genetics
    • Biochemistry
    • Internal Medicine

    Background:

    • Fabry disease is an X-linked recessive disorder caused by deficient activity of the enzyme alpha-galactosidase A.
    • This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues.
    • Understanding the clinical spectrum and genetic basis is crucial for diagnosis and management.

    Observation:

    • A 16-member black kindred with Fabry disease was studied.
    • Affected males exhibited significantly reduced plasma alpha-galactosidase A levels (<6%).
    • Heterozygous females showed intermediate enzyme levels (10-50% of normal).

    Findings:

    • The index male presented with hypertension, left ventricular hypertrophy, renal dysfunction, retinal abnormalities, and characteristic cellular inclusions.
    • Other affected males showed left ventricular hypertrophy and retinal vein changes.
    • Carrier females displayed a range of symptoms including headaches, retinal vessel abnormalities, proteinuria, and cardiac conduction defects (bundle-branch blocks).

    Implications:

    • This case study illustrates the phenotypic variability of Fabry disease in both males and females within a single family.
    • It underscores the importance of biochemical and clinical assessments for identifying affected individuals and carriers.
    • The findings contribute to the understanding of Fabry disease's X-linked inheritance and its diverse clinical impact.

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