Zellweger syndrome is associated with either severe, moderate or mild defects in all peroxisome functions. Zellweger syndrome represents the extreme of the clinical manifestation of peroxisome biogenesis dysfunction with patients rarely surviving their first year of life. NALD is an autosomal recessive disorder and belongs to the Zellweger spectrum PBD which includes Zellweger syndrome and infantile Refsum disease (IFD). Both adrenoleukodystrophies are biochemically characterized by the accumulation of very long-chain fatty acids (VLCFA). X-ALD is one and neonatal adrenoleukodystrophy (NALD) is the other. There are two inherited disorders that manifest with adrenoleukodystrophy (malfunction in the adrenal cortex and nervous system myelin). The incidence of X-ALD in males is estimated to be between 1:20,000 and 1:50,000 live births. X-ALD results from the deficiency of a single peroxisomal protein. The PBD are caused either by peroxisomal assembly defects or by deficiencies of single peroxisomal proteins.
This family of disorders is referred to as the peroxisome biogenesis disorders, PBD. X-linked adrenoleukodystrophy (X-ALD) is an X-linked recessive disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of the peroxisomes. Introduction to X-Linked Adrenoleukodystrophy Molecular Biology of X-Linked Adrenoleukodystrophy.Introduction to X-Linked Adrenoleukodystrophy.
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