ea0044ep11 | (1) | SFEBES2016
Beebeejaun Mehjabeen
, To Laura
, Hussain Yaqza
, Craner Matthew
, Coyle Frances
, Bingham Emma
, Tringham Jennifer
Adrenoleukodystrophy (ALD) is an X-linked, widely heterogeneous, neurodegenerative disorder of peroxisomal metabolism characterised by the accumulation of very-long-chain fatty acids (VLCFA). A mutation in the ABCD1 gene is responsible. ALD has both a neurological and an endocrine interface as VLCFA deposit in the central and peripheral nervous system as well as the adrenal cortex and testis. ALD can present in childhood with a cerebral form or later in life as an adrenomyelon...