Zellwegerspekteret

Zellwegerspekteret refers to a spectrum of rare genetic disorders known as Zellweger spectrum disorders (ZSD). These disorders are characterized by a deficiency in peroxisomes, which are essential cellular organelles responsible for various metabolic processes, including the breakdown of fatty acids and the synthesis of certain lipids. The underlying cause of ZSD is mutations in genes that encode peroxisomal membrane proteins, leading to a broad range of functional peroxisome deficiencies.

The Zellweger spectrum encompasses several conditions, with Zellweger syndrome being the most severe. Other disorders within the spectrum include neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease. The severity of symptoms in ZSD can vary significantly, from profound neurological impairment and early mortality in Zellweger syndrome to milder intellectual disability and less severe physical manifestations in other forms.

Common clinical features across the spectrum can include distinctive facial features, severe intellectual disability, vision and hearing impairments, seizures, liver dysfunction, and skeletal abnormalities. The diagnosis of ZSD is typically made based on clinical findings and confirmed through biochemical testing that reveals characteristic abnormalities in very long-chain fatty acids and other metabolites. Genetic testing can identify the specific gene mutation responsible. Currently, there is no cure for Zellweger spectrum disorders, and treatment focuses on managing symptoms and providing supportive care to improve the quality of life for affected individuals.