• 대한유전성대사질환학회지
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• 제2권1호
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• pp.15-19
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• 2002

Disorders resulting from defects in peroxisomal biogenesis include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. The three diseases are now considered as a continuum of clinical features. Neonatal adrenoleukodystrophy is intermediate between Zellweger syndrome and infantile Refsum disease in severity, and is characterized by profound hypotonia, intractable seizures and premature death. We report a cases of neonatal adrenoleukodystrophy presenting with neonatal seizure and hypotonia. At the age of 43 months, she had clinical evidence of adrenal insufficiency with skin hyperpigmentation and electrolyte imbalance. She was diagnosed having neonatal adrenoleukodystrophy based on abnormally high levels of plasma very long-chain fatty acids, pipecolic acid and phytanic acid.