Print friendly version
Other Names for this Disease
- Cerebrohepatorenal syndrome
- Zellweger leukodystrophy
Tests & Diagnosis
A diagnosis of a Zellweger syndrome is typically first suspected due to the characteristic signs and symptoms present at birth, including the distinctive facial features. Tests that measure or detect specific substances in blood or urine samples (biochemical assays) 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 and is indicative of Zellweger spectrum disorders. Additional tests on blood and urine samples to detect other substances associated with the condition may be performed. An ultrasound may be used to detect cysts on the kidneys or an enlarged liver. A genetic test to detect a mutation in one of the genes associated with Zellweger spectrum disorders may also be used to confirm the diagnosis.
Last updated: 12/30/2011
- Zellweger Spectrum Disorders. NORD. September 15, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/363/viewAbstract. Accessed 12/29/2011.
- Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. January 18, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1448/. Accessed 12/29/2011.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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.