Document Detail


Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
MedLine Citation:
PMID:  15858960     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIM: Fatty acid beta-oxidation defects comprise a heterogeneous group of disorders that may precipitate acute life threatening metabolic crises particularly during catabolic episodes. Several studies have demonstrated a possible association between fatty acid beta-oxidation defects, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and severe pregnancy complications. However, the precise percentage of women with haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome associated with foetal fatty acid beta-oxidation defects is not known. METHODS: We carried out a multicentre retrospective study on 88 infants, born to women with HELLP syndrome. Acylcarnitine profiles from blood dried on filter paper cards were analysed by tandem mass spectrometry for the diagnosis of fatty acid beta-oxidation defects. In addition, we screened for the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation using a standard restriction fragment length polymorphism polymerase chain reaction method. RESULTS: None of the infants studied carried the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation. There was no evidence of fatty acid beta-oxidation defects, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, as expected by unremarkable acylcarnitine profiles, while three infants with fatty acid beta-oxidation defects were diagnosed in the control group. CONCLUSIONS: Neither foetal long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, including heterozygosity for the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation, nor fatty acid beta-oxidation defects in general are a major risk factor for HELLP syndrome in Austria.
Authors:
M Holub; O A Bodamer; C Item; A Mühl; A Pollak; S Stöckler-Ipsiroglu
Publication Detail:
Type:  Journal Article; Multicenter Study    
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  94     ISSN:  0803-5253     ISO Abbreviation:  Acta Paediatr.     Publication Date:  2005 Jan 
Date Detail:
Created Date:  2005-04-29     Completed Date:  2005-06-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  Norway    
Other Details:
Languages:  eng     Pagination:  48-52     Citation Subset:  IM    
Affiliation:
Department of Neonatology and Paediatric Intensive Care Medicine, University Hospital Vienna, Austria.
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MeSH Terms
Descriptor/Qualifier:
3-Hydroxyacyl CoA Dehydrogenases / deficiency*,  genetics
Adult
Carnitine / analogs & derivatives*,  blood*
Case-Control Studies
DNA Mutational Analysis
Female
HELLP Syndrome / etiology*
Humans
Infant, Newborn
Male
Metabolism, Inborn Errors / complications*,  diagnosis*
Pregnancy
Retrospective Studies
Risk Factors
Chemical
Reg. No./Substance:
0/acylcarnitine; 541-15-1/Carnitine; EC 1.1.1.35/3-Hydroxyacyl CoA Dehydrogenases

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


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