Infantile Refsum Disease

Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of 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 ...1

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Symptoms of Infantile Refsum Disease

Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, and hearing problems that usually progress to deafness by early childhood. Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone ...2

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Causes of Infantile Refsum Disease

Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of peroxisome 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 ...3

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Types of Infantile Refsum Disease

Some types of this condition may include:4 Types of infantile Refsum disease:

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Genetics of Infantile Refsum Disease

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)5 ...

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Treatments: Infantile Refsum Disease

Is there any treatment? The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid ...6

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Research for Infantile Refsum Disease

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 ...7

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Names and Terminology

Synonym(s): Infantile Phytanic Acid Storage Disease, Refsum Disease - Infantile ...Source: NINDS (NIH)8 ...

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References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum_infantile/ refsum_infantile.htm
  2. ibid.
  3. ibid.
  4. Source: NCI Thesaurus
  5. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0282527/ 
  6. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum_infantile/ refsum_infantile.htm
  7. ibid.
  8. ibid.

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