Zellweger Syndrome Spectrum

Zellweger syndrome spectrum (ZSS) is a group of inherited diseases that includes Zellweger syndrome, neonatal adenoleukodystrophy (NALD), and infantile Refsum disease (IRD). While initially thought to be distinct disorders, these conditions are now known to be part of the same disease spectrum and share similar symptoms but vary in severity. Zellweger syndrome spectrum is characterized by progressive neurological disease, liver and kidney disease, and hearing and vision loss. The symptoms of ZSS are due to a defect in the body’s ability to produce peroxisomes. Peroxisomes are structures found in almost every cell of the body and are essential for normal brain and nervous system development as well as normal eye, liver, kidney, and bone functions. View testing options