Other Names for this Disease
- PBD, ZSS
- PBD-Zellweger spectrum disorder
- Peroxisomal biogenesis disorders, Zellweger syndrome spectrum
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Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes
Last updated: 6/18/2013
- Zellweger spectrum. Genetics Home Reference. April 2010; http://ghr.nlm.nih.gov/condition/zellweger-spectrum. Accessed 6/14/2013.
- Steven J Steinberg, Gerald V Raymond, Nancy E Braverman and Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReveiws. May 10, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1448/.
- Genetics Home Reference contains information on Zellweger spectrum. This website is maintained by the National Library of Medicine.