Document Detail

Is autism a disorder of fatty acid metabolism? Possible dysfunction of mitochondrial beta-oxidation by long chain acyl-CoA dehydrogenase.
MedLine Citation:
PMID:  15142659     Owner:  NLM     Status:  MEDLINE    
Long chain acyl-CoA dehydrogenase (LCAD) has recently been shown to be the mitochondrial enzyme responsible for the beta-oxidation of branched chain and unsaturated fatty acids [Biochim. Biophys. Acta 1393 (1998) 35; Biochim. Biophys. Acta 1485 (2000) 121]. Whilst disorders of short, medium and very long chain acyl dehydrogenases are known, there is no known disorder of LCAD deficiency in humans. Experimental LCAD deficiency in mice shows an acyl-carnitine profile with prominent elevations of unsaturated fatty acid metabolites C14:1 and C14:2 [Hum. Mol. Genet. 10 (2001) 2069]. A child with autism whose acyl-carnitine profile also shows these abnormalities is presented, and it is hypothesized that the child may have LCAD deficiency. Additional metabolic abnormalities seen in this patient include alterations of TCA energy production, ammonia detoxification, reduced synthesis of omega-3 DHA, and abnormal cholesterol metabolism. These metabolic changes are also seen as secondary abnormalities in dysfunction of fatty acid beta-oxidation, and have also been reported in autism. It is hypothesized that LCAD deficiency may be a cause of autism. Similarities between metabolic disturbances in autism, and those of disorders of fatty acid beta-oxidation are discussed.
Tonya Clark-Taylor; Benjamin E Clark-Taylor
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Medical hypotheses     Volume:  62     ISSN:  0306-9877     ISO Abbreviation:  Med. Hypotheses     Publication Date:  2004  
Date Detail:
Created Date:  2004-05-14     Completed Date:  2004-12-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7505668     Medline TA:  Med Hypotheses     Country:  Scotland    
Other Details:
Languages:  eng     Pagination:  970-5     Citation Subset:  IM    
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MeSH Terms
Acyl-CoA Dehydrogenase, Long-Chain / deficiency,  metabolism*
Autistic Disorder / complications,  etiology*,  metabolism
Eczema / complications
Fatty Acids / metabolism*
Food Hypersensitivity / complications
Metabolism, Inborn Errors / complications
Mitochondria / metabolism*
Models, Theoretical
Oxygen / metabolism*
Reg. No./Substance:
0/Fatty Acids; 7782-44-7/Oxygen; EC Dehydrogenase, Long-Chain

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

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