X-linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes

Asif Mahmood, Prachi Dubey, Hugo W. Moser, Ann Moser

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)55-62
Number of pages8
JournalPediatric transplantation
Volume9
Issue numberSUPPL. 7
DOIs
StatePublished - Dec 1 2005

Keywords

  • Adrenal gland
  • Adrenoleukodystrophy
  • Bone marrow transplant
  • Peroxisomes
  • Very long chain fatty acids

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Transplantation

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