Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations

Helvacioglu et al. (2025) used Genomize-SEQ to identify a novel ACOX1 deletion in two cousins with PNALD, showing that adrenal insufficiency — previously associated mainly with whole-peroxisome assembly disorders — can also arise from a single broken peroxisomal enzyme.