A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.
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.
Vanhole
C
C
Department of Paediatrics, University of Leuven, Belgium.
de Zegher
F
F
Casaer
P
P
Devlieger
H
H
Wanders
R J
RJ
Vanhove
G
G
Jaeken
J
J
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*
D005227:Fatty Acids