Abstract
The peroxisome biogenesis disorders (PBDs), which comprise Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), represent a spectrum of disease severity with ZS being the most, and IRD the least severe disorder. Common to all three PBDs are liver disease, variable neurodevelopmental delay, retinopathy and perceptive deafness (Gould, Raymond, and Valle 2001). Patients with ZS are severely hypotonic from birth and die before one year of age. Patients with NALD experience neonatal onset of hypotonia and seizures and suffer from progressive white matter disease and usually die in late infancy (Kelley et al. 1986). Patients with IRD may survive beyond infancy and some may even reach adulthood (Poll-The et al. 1987). Clinical differentiation between these disease states is not very well-defined and patients can have overlapping symptoms (Barth et al. 2001).
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Gootjes, J., Mandel, H., Mooijer, P.A., Roels, F., Waterham, H.R., Wanders, R.J. (2003). Resolution of the Molecular Defect in a Patient with Peroxisomal Mosaicism in the Liver. In: Roels, F., Baes, M., De Bie, S. (eds) Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology, vol 544. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9072-3_15
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DOI: https://doi.org/10.1007/978-1-4419-9072-3_15
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