Peroxisome Biogenesis Disorders

Perixisome Biogenesis Disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies. ...Source: NINDS (NIH)1 ...

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Symptoms of Peroxisome Biogenesis Disorders

Common symptoms include:

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Causes of Peroxisome Biogenesis Disorders

Collectively, these disorders are caused by inherited defects in any one of 12 genes, called PEX genes, which are required for the normal formation and function of peroxisomes. Peroxisomes are cell structures required for the normal formation and function of ...2

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Causes List for Peroxisome Biogenesis Disorders

Some possible causes of Peroxisome Biogenesis Disorders or similar disorders may include:3

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Types of Peroxisome Biogenesis Disorders

Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of peroxisome biogenesis disorders (PBDs). The Zellweger spectrum of PBDs include related, but not more severe, disorders referred to as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy. ...Source: NINDS ...4

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Diagnosis of Peroxisome Biogenesis Disorders

How are Peroxisome Biogenesis Disorders diagnosed? PBDs are diagnosed by finding abnormal peroxisomal metabolites in the blood or urine of individuals suspected to have a PBD based on their clinical symptoms. Often, elevated very long-chain fatty acids and reduced ...5

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Genetics of Peroxisome Biogenesis Disorders

The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. ...Source: NINDS (NIH)6 ...

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Treatments: Peroxisome Biogenesis Disorders

What is the treatment for Peroxisome Biogenesis Disorders? Symptoms are treated as they arise using standard therapies. There is no cure for PBDs and specific treatments that target the underlying genetic defect are not yet available. Research offers hope that ...7

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Research for Peroxisome Biogenesis Disorders

What research is being done? The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions ...8

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Similar Topic Articles

Names and Terminology

Related Diseases: The following diseases are related to Peroxisomal biogenesis disorders . If you have a question about any of these diseases, you can contact GARD ...9

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References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum_infantile/ refsum_infantile.htm
  2. ibid.
  3. Source: Algorithmically Generated List
  4. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum_infantile/ refsum_infantile.htm
  5. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ stair/ Learn-More/ Disorder-Definitions
  6. Source: NINDS (NIH): ninds.nih.gov/ disorders/ zellweger/ zellweger.htm
  7. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ stair/ Learn-More/ Disorder-Definitions
  8. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum_infantile/ refsum_infantile.htm
  9. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 9473/ peroxisomal-biogenesis-disorders

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