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Peroxisomal Disorders
Definition: 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.

Synonym(s): Adrenoleukodystrophy, Neonatal / Hyperpipecolic Acidemia / Peroxisomal Dysfunction, General / Peroxisomal Dysfunction, Multiple / Peroxisomal Dysfunction, Single / Acidemia, Hyperpipecolic / Acidemias, Hyperpipecolic / Adrenoleukodystrophies, Neonatal / Dysfunction, General Peroxisomal / Dysfunction, Multiple Peroxisomal / Dysfunction, Single Peroxisomal / Dysfunctions, General Peroxisomal / Dysfunctions, Multiple Peroxisomal / Dysfunctions, Single Peroxisomal / General Peroxisomal Dysfunction / General Peroxisomal Dysfunctions / Hyperpipecolic Acidemias / Multiple Peroxisomal Dysfunction / Multiple Peroxisomal Dysfunctions / Neonatal Adrenoleukodystrophies / Neonatal Adrenoleukodystrophy / Peroxisomal Disorder / Peroxisomal Dysfunctions, General / Peroxisomal Dysfunctions, Multiple / Peroxisomal Dysfunctions, Single / Single Peroxisomal Dysfunction / Single Peroxisomal Dysfunctions

Narrow term(s):
   Adrenoleukodystrophy    Refsum Disease    Refsum Disease, Infantile
   Zellweger Syndrome    Acatalasia    Chondrodysplasia Punctata, Rhizomelic

See also:
Peroxisomes   

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Peroxisomal Disorders"
  English (7)  French (1)    Spanish (1)      

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the robot description of the site Infantile Refsum Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com 2
view the robot description of the site Infantile Refsum Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the robot description of the site Infantile Refsum Diseasewww.pacifier.com  
view the HON description of the site HONcode - EuroGentest - Event - ERNDIM Workshop on DPT schemes 2007 and EQA and diagnosis of peroxisomal disorders (WP1.5) www.eurogentest.org  
view the HON description of the site HONcode - Orphanet: Neonatal adrenoleukodystrophywww.orpha.net 5
 
 
See also: - Peroxisomes
Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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  Medical image(s) for "Peroxisomal Disorders"
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Narrow term(s): - Adrenoleukodystrophy

See also: - Peroxisomes
Broader term(s): - Brain Diseases, Metabolic - Brain Diseases - Nervous System Diseases
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  Medical News for "Peroxisomal Disorders"
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Broader term(s): - Nervous System Diseases

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  Scientific articles from MEDLINE for "Peroxisomal Disorders"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Peroxisomal Disorders"
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Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  Medical Conferences/Events for "Peroxisomal Disorders"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn 

MeSH 2010 © U.S. National Library of Medicine®.

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