Neonatal Adrenoleukodystrophy Research Paper

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Neonatal Adrenoleukodystrophy, or NALD, is an autosomal recessive disease involving the defective growth of the adrenal glands and white matter in the brain. As an intermediate on the PBD-Zellweger syndrome continuum, NALD is marked by limited psychomotor development, facial dimorphisms, seizures, in addition to visual and auditory impairments; being fatal in some cases. Its peroxisomal deficiencies impart the presence of defects in plasma very long chain fatty acid levels, bile acid, and associated biochemical parameters. Such abnormalities are a result of over fifteen genes that regulate peroxisomal biogenesis. Specifically, mutations to the PEX5 gene terminates normal protein translocation into the peroxisomal matrix. Therapy for NALD varies

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