Document Detail

Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders.
MedLine Citation:
PMID:  12135806     Owner:  NLM     Status:  MEDLINE    
Mitochondrial fatty acid beta-oxidation disorders (FAOD) are a group of clinically and biochemically heterogeneous inherited metabolic defects. The spectrum of phenotypes has expanded from hepatic encephalopathy to encompass myopathy, cardiomyopathy, peripheral neuropathy, sudden death and pregnancy complicated by fetal FAOD. Pre-symptomatic diagnosis is important to prevent morbidity and this is now achievable through newborn screening using tandem mass spectrometry (MS/MS). Moreover, most of the diagnosed defects are treatable and the prognosis is generally favourable. This article reviews the features of FAOD, critically evaluates methods of investigation including metabolite analyses in body fluids, in vitro oxidation rates and acylcarnitine profiling studies, enzymatic and mutational tests, and discusses genotype-phenotype correlation, treatment and monitoring options. Based on this knowledge, strategies for the biochemical investigation and differential diagnosis of patients presenting clinically, asymptomatic neonates detected by newborn screening, infants born after complications during late pregnancy, and cases of sudden death with suspected FAOD are presented. Laboratory investigation commonly begins with a search for diagnostic metabolites in physiological fluids, followed by in vitro functional studies if the initial findings are inconclusive, and confirmation by enzymology and molecular analyses. Occasionally a stress test in vivo may be required. At other times there may be no firm diagnosis achieved.
Keow G Sim; Judith Hammond; Bridget Wilcken
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  323     ISSN:  0009-8981     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  2002 Sep 
Date Detail:
Created Date:  2002-07-23     Completed Date:  2002-10-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  37-58     Citation Subset:  IM    
New South Wales Biochemical Genetics Service, The Children's Hospital at Westmead, Sydney, Australia. .au
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MeSH Terms
Diagnosis, Differential
Fatty Acids / metabolism*
Infant, Newborn
Lipid Metabolism, Inborn Errors / blood,  diagnosis*,  metabolism*,  urine
Mass Spectrometry
Mitochondria / metabolism*,  pathology*
Neonatal Screening
Reg. No./Substance:
0/Fatty Acids

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

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