Document Detail

Restoring the DHA levels in the brains of Zellweger patients.
MedLine Citation:
PMID:  11478386     Owner:  NLM     Status:  MEDLINE    
Patients with the Zellweger syndrome and its variants have very low levels of docosahexaenoic acid (DHA) in the brain, retina, and other tissues. Such a marked DHA deficiency could be related to the pathogenesis of peroxisomal disorders. Therefore, restoring the DHA levels in these patients can probably improve the clinical course of the disease. With this rationale, 20 patients with generalized peroxisomal disorders have been treated to date with DHA ethyl ester, at daily doses of 100-500 mg, for variable periods of time. Treatment has been always accompanied by a nutritious diet, normal for the age, in order to provide all the necessary nutrients and avoid a polyunsaturated fatty acid (PUFA) imbalance. The most constant improvement has been normalization of the DHA levels and liver function. Vision has improved in about half the patients and muscle tone has generally increased. Magnetic resonance imaging (MRI) examination revealed improvement of myelination in 9 patients. Significantly, the clinical improvement has been most marked in those patients who started the treatment before 6 mo of age. Biochemically, the plasma very long-chain fatty acids (VLCFA) 26:0 and 26:1n-9 decreased markedly despite the complete diet provided. In erythrocytes, the plasmalogen ratio 18: ODMA/18:0 increased in most cases, and sometimes even normalized. All these beneficial effects suggest that DHA deficiency plays a fundamental role in the pathogenesis of peroxisomal disease. Because DHA accretion is maximal during early brain development, it is essential to initiate the treatment as soon as possible. Otherwise, restoration of brain DHA levels and prevention of further damage will not be possible.
M Martinez
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of molecular neuroscience : MN     Volume:  16     ISSN:  0895-8696     ISO Abbreviation:  J. Mol. Neurosci.     Publication Date:    2001 Apr-Jun
Date Detail:
Created Date:  2001-07-31     Completed Date:  2002-02-14     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  9002991     Medline TA:  J Mol Neurosci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  309-16; discussion 317-21     Citation Subset:  IM    
Unit for Research in Biochemistry and Molecular Biology, Maternity-Children's Hospital Vall d'Hebron, Barcelona, Spain.
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MeSH Terms
Adrenoleukodystrophy / drug therapy*,  metabolism,  pathology
Age Factors
Brain / embryology,  metabolism*,  pathology
Child, Preschool
Demyelinating Diseases / prevention & control
Docosahexaenoic Acids / administration & dosage,  blood,  pharmacokinetics,  therapeutic use*
Erythrocyte Membrane / chemistry
Gestational Age
Infant, Newborn
Lipid Metabolism
Liver / metabolism
Magnetic Resonance Imaging
Membrane Lipids / metabolism
Myelin Sheath / metabolism,  pathology
Peroxisomes / metabolism
Plasmalogens / metabolism
Quality of Life
Refsum Disease / drug therapy*,  metabolism,  pathology
Treatment Outcome
Zellweger Syndrome / drug therapy*,  metabolism,  pathology
Reg. No./Substance:
0/Membrane Lipids; 0/Plasmalogens; 25167-62-8/Docosahexaenoic Acids; 84494-72-4/4,7,10,13,16,19-docosahexaenoic acid ethyl ester

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