hrp0089p3-p022 | Adrenals and HPA Axis P3 | ESPE2018
, Gan Hoong-Wei
, Biedenkapp Joe
, Davison James
Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 3540% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...