Document Detail


The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease.
MedLine Citation:
PMID:  20547622     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To evaluate the long-term effectiveness of dietary therapy with regular dietetic reinforcement for adult Refsum disease. METHODS: Retrospective case note analysis of records of plasma phytanic acid and hospital admission of 13 patients with adult Refsum disease who attended the specialist centre and repeatedly received dietary instruction for a minimum of 10 years. RESULTS: Patients undergoing review had attended for 11-28 years totalling 237 years. Median baseline phytanic acid concentrations at presentation were 1631 (370-2911) micromol/l and declined by 89+/-11% to 85 (10-1325) micromol/l. Levels of phytanic acid were completely normalised (<30 micromol/l) in 30%; partially normalised (30-300 micromol/l) in 50% and remained >300 pmol/l in 15%. The time required for phytanic acid levels to halve was 44.2+/-15.9 months in patients compliant with diet. No patient required admission or plasmapheresis/apheresis during this period for acute neuro-ophthalmological complications despite occasional spikes in phytanic acid levels attributable to intercurrent illness, surgery, sudden weight loss or psychological illness. INTERPRETATION: Dietary modification with regular reinforcement in Adult Refsum Disease can significantly reduce phytanic acid levels with time.
Authors:
Eleanor J Baldwin; F Brian Gibberd; Claire Harley; Margaret C Sidey; Michael D Feher; Anthony S Wierzbicki
Publication Detail:
Type:  Evaluation Studies; Journal Article     Date:  2010-06-14
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  81     ISSN:  1468-330X     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-08-27     Completed Date:  2010-09-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  England    
Other Details:
Languages:  eng     Pagination:  954-7     Citation Subset:  IM    
Affiliation:
Department of Chemical Pathology, St Thomas' Hospital, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Female
Humans
Male
Middle Aged
Mixed Function Oxygenases / genetics
Mutation
Phytanic Acid / blood
Refsum Disease / blood,  diet therapy*,  genetics
Time Factors
Chemical
Reg. No./Substance:
14721-66-5/Phytanic Acid; EC 1.-/Mixed Function Oxygenases; EC 1.14.-/PHYH protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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