X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥ C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.
Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. m.engelen@amc.uva.nl
Marc
M
Engelen
Stephan
S
Kemp
Marianne
M
de Visser
Björn M
BM
van Geel
Ronald J A
RJ
Wanders
Patrick
P
Aubourg
Bwee Tien
BT
Poll-The
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D017410:Practice Guidelines as Topic; D011379:Prognosis