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Articles » NINDS Zellweger Syndrome Information Page: NINDS

NINDS Zellweger Syndrome Information Page: NINDS

Article title: NINDS Zellweger Syndrome Information Page: NINDS

Main condition: Zellweger Syndrome

Conditions: Zellweger Syndrome

Table of Contents (click to jump to sections)

What is Zellweger Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?


What is Zellweger Syndrome?
Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of genetic disorders called peroxisomal diseases that affect brain development and the growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain. The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.

Is there any treatment?
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.

What is the prognosis?
The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.

What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such as Zellweger syndrome. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.


National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
Tel: 301-496-5133 800-370-2943

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
Tel: 815-895-3211 800-728-5483
Fax: 815-895-2432

This fact sheet is in the public domain. You may copy it.

Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

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