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No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy

Bone Marrow Transplantation volume 47, pages 1377–1378 (2012)Cite this article

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X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by accumulation of saturated very long-chain fatty acids (VLCFA) primarily in the adrenal cortex, central nervous system and testes. ALD results from mutations in the ABCD1 gene, which encodes a peroxisomal membrane transport protein.1 The link between peroxisomal dysfunction and accumulation of VLCFA is not completely understood. Although impaired peroxisomal β-oxidation of VLCFA has been shown to have a role, mechanisms independent of the peroxisomal β-oxidation have also been proposed.2

The severity and tempo of progression of end-organ involvement vary among patients. Neurological disease is the most devastating manifestation, presenting either during childhood as rapidly progressive cerebral ALD or during adulthood as adrenomyeloneuropathy, a slowly progressive disease of the spinal cord, or both. Adrenal insufficiency (AI), either subclinical or overt, is found in the majority of patients with ALD, and may be present in up to 92% of children with cerebral disease.3

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Authors and Affiliations

  1. Division of Pediatric Endocrinology, University of Minnesota Amplatz Children's Hospital, Minneapolis, MN, USA

    A Petryk, L E Polgreen & S Chahla

  2. Division of Pediatric Blood and Marrow Transplantation, University of Minnesota Amplatz Children's Hospital, Minneapolis, MN, USA

    W Miller & P J Orchard

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  1. A Petryk
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  2. L E Polgreen
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  3. S Chahla
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  4. W Miller
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  5. P J Orchard
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Correspondence to A Petryk.

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Petryk, A., Polgreen, L., Chahla, S. et al. No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy. Bone Marrow Transplant 47, 1377–1378 (2012). https://doi.org/10.1038/bmt.2012.33

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