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X‐linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes
Author(s) -
Mahmood Asif,
Dubey Prachi,
Moser Hugo W.,
Moser Ann
Publication year - 2005
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/j.1399-3046.2005.00447.x
Subject(s) - adrenoleukodystrophy , phenotype , asymptomatic , medicine , newborn screening , pathogenesis , hematopoietic stem cell transplantation , clinical phenotype , therapeutic approach , asymptomatic carrier , genetic enhancement , bioinformatics , genetics , immunology , pediatrics , transplantation , pathology , gene , biology , disease , peroxisome , receptor
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.