Peroxisomal disorders

Introduction: Peroxisomal disorders

Description of Peroxisomal disorders

Peroxisomal disorders: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Source: MeSH 2007

Terms associated with Peroxisomal disorders:

Terms Similar to Peroxisomal disorders:

• Adrenoleukodystrophy, Neonatal
• Hyperpipecolic Acidemia

Source - MeSH 2007

More specific terms for Peroxisomal disorders:

• Adrenoleukodystrophy
• Refsum Disease
• Zellweger Syndrome
• Refsum Disease, Infantile
• Chondrodysplasia Punctata, Rhizomelic
• Acatalasia

Source - MeSH 2007

Broader terms for Peroxisomal disorders

• Brain Diseases, Metabolic, Inborn
• Metabolism, Inborn Errors

Source - MeSH 2007

Hierarchical classifications of Peroxisomal disorders

The following list attempts to classify Peroxisomal disorders into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

• Nervous System Diseases
  • Central Nervous System Diseases
    • Brain Diseases
      • Brain Diseases, Metabolic
        • Brain Diseases, Metabolic, Inborn
          • Peroxisomal Disorders

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Brain Diseases, Metabolic, Inborn
        • Peroxisomal Disorders

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Peroxisomal Disorders

MeSH 2007 Hierarchy

• Nutritional and Metabolic Diseases
  • Metabolic Diseases
    • Brain Diseases, Metabolic
      • Brain Diseases, Metabolic, Inborn
        • Peroxisomal Disorders

MeSH 2007 Hierarchy

• Nutritional and Metabolic Diseases
  • Metabolic Diseases
    • Metabolism, Inborn Errors
      • Brain Diseases, Metabolic, Inborn
        • Peroxisomal Disorders

Disease Ontology - OBO (Open Biomedical Ontologies)

• Other specified disorders of metabolism
• Other and unspecified disorders of metabolism
• OTHER METABOLIC AND IMMUNITY DISORDERS
• ENDOCRINE, NUTRITIONAL AND METABOLIC DISEASES, AND IMMUNITY DISORDERS
• DISEASES AND INJURIES
• Disease Ontology V2.1 2005

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Medical dictionaries:

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• Medical Acronymns/Abbreviations

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