neonatal adrenoleukodystrophy

Pathology

• accumulation of very long-chain fatty acids

Genetics

• associated with defects in EHHADH expression
• associated with defects in PEX1, PEX5, PEX10, PEX13, PEX26

Clinical manifestations

• adrenal insufficiency
• mental retardation

Laboratory

• PEX1 gene mutation

More general terms

• adrenoleukodystrophy
• peroxisomal biogenesis disorder

Database

• OMIM: https://mirror.omim.org/entry/202370
• OMIM: https://mirror.omim.org/entry/600414