Home > Encyclopedia of Neurological Disorders > Zellweger Syndrome

Definition

Zellweger syndrome is a severe and fatal genetic disorder affecting the brain, liver, and kidneys. It can be inherited by children of individuals that carry mutations for a specific gene.

Description

Zellweger syndrome is a fatal disorder that damages the brain, liver, and kidneys. There are related syndromes that have Zellweger-like symptoms and involve defects in the distinct cytoplasm organelles of cells called the peroxisomes; these include neonatal adrenoleukodystrophy, infantile Refsum disease, and hyperpipecolic acidemia. Zellweger syndrome is the most severe of these related syndromes.

Demographics

The incidence of Zellweger syndrome worldwide is roughly one in 100,000 births.

Causes and...