title: A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.
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.
authors.affiliation: Department of Paediatrics, University of Leuven, Belgium.
authors.forename: C
authors.initials: C
authors.lastname: Vanhole
authors.forename: F
authors.initials: F
authors.lastname: de Zegher
authors.forename: P
authors.initials: P
authors.lastname: Casaer
authors.forename: H
authors.initials: H
authors.lastname: Devlieger
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: G
authors.initials: G
authors.lastname: Vanhove
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D000309:Adrenal Insufficiency / Q000473:pathology*; D000326:Adrenoleukodystrophy / Q000378:metabolism / Q000473:pathology*; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism / Q000648:ultrastructure; D008297:Male; D008830:Microbodies / Q000378:metabolism / Q000473:pathology*
chemical_list: D005227:Fatty Acids