X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.
X-linked adrenoleukodystrophy (X-ALD) in males can present with eight distinct phenotypes, which vary greatly in respect to phenotypic expression, age of onset and rate of progression and therapy. The plasma very long chain fatty acid assay permits precise diagnosis and is already abnormal at birth. The clinical features, molecular biology, pathogenesis, and therapeutic approaches, including the indications for Hematopoietic Stem Cell Transplants (HCT) and dietary therapy are discussed, with emphasis on the asymptomatic, childhood cerebral, and adrenomyeloneuropathy phenotypes. The rationale for neonatal screening and the profound effect that such screening would have on the therapy of X-ALD, including the role of HCT, are discussed.
Mahmood
Asif
A
Department of Neurology and Pediatrics, Neurogenetics Division, Johns Hopkins University, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Dubey
Prachi
P
Moser
Hugo W
HW
Moser
Ann
A
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000628:therapy*; D000328:Adult; D001927:Brain Diseases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015997:Neonatal Screening; D010641:Phenotype