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A new peroxisomal disorder with fetal and neonatal adrenal insufficiency
C Vanhole1, F de Zegher, P Casaer
1Department of Paediatrics, University of Leuven, Belgium.
Abstract:
A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.