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Peroxisomal disorders

H W Moser1

  • 1Kennedy Krieger Institute, Baltimore, MD 21205, USA.

Seminars in Pediatric Neurology
|December 1, 1996
PubMed
Summary
This summary is machine-generated.

Peroxisomal disorders, linked to Zellweger syndrome, are a group of 16 diseases, 12 affecting neurological function. Understanding peroxisome biology is key to diagnosing and treating these rare conditions.

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Clinical Medicine

Background:

  • Peroxisomal disorders were first identified in Zellweger syndrome patients lacking peroxisomes.
  • Interest in peroxisomes has surged due to their cellular and molecular biology and clinical relevance.

Purpose of the Study:

  • To provide basic information on peroxisome structure and function.
  • To summarize the classification, diagnosis, genetics, pathogenesis, and therapy of peroxisomal disorders.

Main Methods:

  • Review of existing literature on peroxisome biology and disorders.
  • Clinical case data analysis from over 3,000 identified patients.

Main Results:

  • Sixteen distinct peroxisomal disorders have been identified to date.

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  • Twelve of these disorders are associated with severe neurological disability.
  • Peroxisomal disorders are not infrequent, with over 3,000 patients identified.

    • Conclusions:

    • Peroxisomal disorders represent a significant group of diseases, particularly impacting neurological health.
    • Further research into peroxisome structure, function, and genetics is crucial for therapeutic advancements.