Zellweger syndrome

What causes Zellweger syndrome?

Zellweger syndrome is an autosomal recessive condition caused by changes (mutations) in any one of at least 12 different genes that are involved in the creation and proper function of peroxisomes. Peroxisomes are structures in cells that are involved in many chemical processes needed for the body to function properly. They are vital for the proper breakdown of fatty acids and the production of certain lipids (fats) that are important to the nervous system and digestion. They are also play a role in waste disposal and help with the development and function of the brain. Mutations in the genes responsible for Zellweger syndrome cause dysfunction of peroxisomes, which leads to the signs and symptoms of the condition.

Almost 70% of individuals with a Zellweger spectrum disorder have a mutation in the PEX1 gene. The other genes associated with the Zellweger spectrum each account for a smaller percentage of cases. To see a list of the genes associated with Zellweger syndrome click here.

Last updated on 05-01-20

How is Zellweger syndrome diagnosed?

A diagnosis of a Zellweger syndrome is usually suspected when characteristic signs and symptoms are present at birth, including the distinctive facial features. Tests that measure or detect specific substances in blood or urine samples can confirm a diagnosis of Zellweger syndrome. For example, detection of elevated levels of very long chain fatty acids (VLCFA) in the blood is the most commonly used screening test. Additional tests on blood and urine samples to find other substances associated with the condition may be performed. An ultrasound may be used to look for cysts on the kidneys or an enlarged liver. A genetic test to find a mutation in one of the genes associated with Zellweger spectrum disorders may also be used to confirm the diagnosis.

Last updated on 05-01-20

Is genetic testing available for Zellweger syndrome?

Yes. Clinical genetic testing is available for the twelve genes known to cause Zellweger syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated on 05-01-20

How is Zellweger syndrome inherited?

Zellweger syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the responsible gene in order to have the condition. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people with Zellweger syndrome?

The long-term outlook (prognosis) for infants with Zellweger syndrome is very poor. Most infants do not survive past the first 6 months of life, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure. Although no specific treatment for Zellweger syndrome currently exists, significant progress has been made in understanding the molecular and biochemical aspects of the condition, which researchers believe will lead to new research strategies and new therapies in the future.

Last updated on 05-01-20

How might Zellweger syndrome be treated?

There is currently no cure or effective treatment for Zellweger syndrome. Management is supportive and based on the signs and symptoms present in each person. For example, infants with feeding issues may require placement of a feeding tube to ensure proper intake of calories. Care is usually handled by a team of specialists that may include pediatricians, neurologists, surgeons, audiologists (treat hearing problems), ophthalmologists (treat vision problems), and orthopedists (treat skeletal abnormalities).

Last updated on 05-01-20

Name: United Leukodystrophy Foundation (ULF) 224 North Second Street Suite 2
DeKalb, IL, 60115 , United States
Phone: 815-748-3211 Toll Free: 800-728-5483 Fax : 815-748-0844 Email: office@ulf.org Url: http://www.ulf.org/
Name: Association Européenne contre les Leucodystrophies (ELA) European Leukodystrophy Association 2, rue Mi-les-Vignes
BP 61024
54521 Laxou Cedex, France
Phone: 333 83 30 93 34 Fax : 333 83 30 00 68 Email: ela@ela-asso.com Url: http://www.ela-asso.com
Name: Global Foundation for Peroxisomal Disorders 5147 South Harvard Avenue Suite 181
Tulsa, OK, 74135, United States
Phone: 347-470-4373 Fax : 918-516-0227 Email: contactus@thegfpd.org Url: http://www.thegfpd.org
Name: European Association against Leukodystrophy ELA 2, rue Mi-les-Vignes BP 61024 54521
Laxou Cedex
France
Email: http://ela-asso.com/en/contact-2/ Url: http://ela-asso.com/en/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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