Zellweger spectrum

Three distinct peroxisome biogenesis disorders, namely Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, can arise due to various mutations occurring in the same genes. These disorders differ primarily in the severity of the resulting condition. Despite being caused by different mutations, these genetic abnormalities affect peroxisome function, leading to impaired metabolic processes within the cells. Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease highlight the spectrum of clinical presentations associated with peroxisome biogenesis disorders, ranging from severe manifestations to milder forms of the condition. Accurate diagnosis, genetic counseling, and appropriate management are essential for individuals affected by these disorders.


 


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