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Refsum disease, infantile

Infantile Refsum disease is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders, which are inherited genetic disorders that damage the white matter of the brain and affect motor movements. Perixisome biogenesis disorders are part of a larger group of disorders called the leukodystrophies.

The Zellweger spectrum of perixisome biogenesis disorders include related, but not more severe, disorders referred to as Zellweger syndrome and neonatal adrenoleukodystrophy. Collectively, these disorders are caused by inherited defects in any one of the 12 PEX genes that are required for the normal formation and function of peroxisomes.

Peroxisomes are cell structures required for the normal formation and function of the brain, eyes, liver, kidneys, and bones. They contain enzymes that break down toxic substances in the cells, including very long chain fatty acids and phytanic acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function.

When peroxisomes are not functioning, there is over-accumulation of long-chain fatty acids and phytanic acid, and a lack of bile acids and plasmalogens, which are specialized lipids found in cell membranes and the myelin sheaths that encase and protect nerve fibers. Infantile Refsum disease has some residual perixisome function, resulting in less severe disease than in Zellweger syndrome.

Symptoms of infantile Refsum disease 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 (hypotonia) and lack of muscle coordination (ataxia)
  • Enlarged liver
  • Mental and growth disabilities
  • Abnormal facial features
  • White matter abnormalities of brain myelin

At the mildest extreme of the disorder, intellect may be preserved. Although adult Refsum disease and infantile Refsum disease have similar names, they are separate disorders caused by different gene defects. Infantile Refsum disease is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond.

How can I or my loved one help improve care for people with infantile Refsum disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about infantile Refsum disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with infantile Refsum disease at

Where can I find more information about infantile Refsum disease?

Information may be available from the following resources:

Child Neurology Foundation
Phone: 612-928-6325

Genetic and Rare Diseases (GARD) Information Center



United Leukodystrophy Foundation
Phone: 815-748-3211 or 800-728-5483

Content source: Accessed June 29, 2023.

The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.

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