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Is subclinical adrenal failure in Adrenoleukodystrophy/Adrenomyeloneuropathy (ALD/AMN) reversible?
MedLine Citation:
PMID:  21399389     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Background: X-linked adrenoleukodystrophy/adrenomieloneuropathy (ALD/AMN) is a progressive neurodegenerative disorder due to mutations in the ABCD1 gene encoding the ABC transporter ALDP. Mutations in ALDP impair peroxisomal beta-oxidation of very long chain fatty acids (VLCFA), resulting in elevated levels of VLCFA in plasma, nervous system and adrenals. Lorenzo's oil, combined with VLCFApoor diet, normalizes plasma VLCFA within one month, but it does not prevent the progression of preexisting neurological symptoms. No previous study analyzed the effect of Lorenzo's oil therapy on adrenal function. Aim: to investigate short term effects of Lorenzo's oil, combined with VLCFA-poor diet, on adrenal function of AMN patients with early subclinical signs of adrenal failure. Subjects and Methods: Seven AMN subjects underwent VLCFA-restricted diet combined with Lorenzo'oil (45 ml/day orally), without steroid therapy, for 6 months. Results: All patients had elevated ACTH at baseline, and a significant reduction was evident after 6 months (median ACTH at baseline: 1300 pg/ml - range: 720-2100; median ACTH at 6 months: 186 pg/ml - range: 109-320, p: 0.0156). Cortisol was normal both at baseline and after 6 months. VLCFA dropped in all patients during the 6 month follow up, and no patient required glucocorticoid replacement therapy. Conclusions: Adrenal insufficiency in ALD/AMN is probably due to a defective adrenal response to ACTH, related to VLCFA accumulation with progressive disruption of the adrenal cell membrane functions. In an early phase, Lorenzo's oil therapy may be able to improve VLCFA clearance and restore a normal ACTH receptor activity, and hypoadrenalism may be potentially reversible.
Authors:
M Cappa; C Bizzarri; G Giannone; C Aiello; A Di Biase
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-7
Journal Detail:
Title:  Journal of endocrinological investigation     Volume:  -     ISSN:  1720-8386     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7806594     Medline TA:  J Endocrinol Invest     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Endocrinology Unit, Bambino Gesú Children's Hospital-IRCCS, Rome, Italy.
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