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Zellweger spectrum disorder

ZEL-weh-gr • SPEK-truhm • disorder

General Condition Information

Other Names

  • Zellweger spectrum disorders
  • Zellweger syndrome

Condition Type

Birth Prevalence

  • It is estimated that approximately 80 babies are born with this condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Increased C26:0 lysophosphatidylcholine or increased C26:0 lysophosphatidylcholine

What is Zellweger spectrum disorder

Zellweger spectrum disorder (ZSD) is group of inherited (genetic) conditions that prevents the body from properly producing peroxisomes, an essential part of cells. Peroxisomes help make energy and fats and break down toxins.

ZSD occurs when abnormal peroxisomes cannot perform their important functions in the body. This especially affects the brain, nerves, bones, liver, heart, and kidneys.

ZSD can cause a spectrum of signs and symptoms that range from severe, intermediate, to mild. The severe form of ZSD is sometimes called Zellweger syndrome, the intermediate form is sometimes called neonatal adrenoleukodystrophy, and the mild form is sometimes called infantile Refsum disease.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. While there are no treatment options available that can stop the progression of ZSD, there are treatments for symptoms of ZSD.

Treatments may include the following:

  • Vitamin supplements
  • Medications
  • Correction of hearing and vision problems
  • Surgery
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