A new peroxisomal disorder with fetal and neonatal adrenal insufficiency

Vanhole, Christine; de Zegher, Francis; Casaer, Paul; Devlieger, Hugo; Wanders, RJ; Vanhove, G; Jaeken, Jacques

doi:10.1136/fn.71.1.F55

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency

Author:

Vanhole, Christine

de Zegher, Francis ; Casaer, Paul ; Devlieger, Hugo ; Wanders, RJ ; Vanhove, G ; Jaeken, Jacques

Keywords:

Adrenal Insufficiency, Adrenoleukodystrophy, Fatty Acids, Humans, Infant, Newborn, Liver, Male, Microbodies, zellweger, Science & Technology, Life Sciences & Biomedicine, Pediatrics, ADRENOLEUKODYSTROPHY, ZELLWEGER, 1114 Paediatrics and Reproductive Medicine, 3213 Paediatrics

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.