Document Detail

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
MedLine Citation:
PMID:  14605499     Owner:  NLM     Status:  MEDLINE    
Inborn errors of metabolism have not previously been recognized as a risk factor for acute respiratory distress syndrome (ARDS). We report this complication in four patients with defects of the mitochondrial trifunctional protein (MTP). This enzyme catalyses three steps in the beta-oxidation of long-chain fatty acids. Three of the patients were homozygous for the 'common' 1528G>C mutation in the alpha-subunit of the MTP, giving rise to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The fourth patient did not carry this mutation but had severely decreased activities of long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-ketoacyl-CoA thiolase. One patient died and histology in this patient showed severe interstitial pulmonary fibrosis. The other three patients recovered after being ventilated for up to 6 months. The high frequency of ARDS in patients with MTP defects suggests that this inborn error may be a risk factor for ARDS.
C T Lundy; J P H Shield; E A Kvittingen; O J Vinorum; E R Trimble; A A M Morris
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  26     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2003  
Date Detail:
Created Date:  2003-11-10     Completed Date:  2004-06-17     Revised Date:  2012-11-16    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  537-41     Citation Subset:  IM    
Departments of Child Health and Clinical Biochemistry, Royal Belfast Hospitalfor Sick Children, Belfast.
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MeSH Terms
3-Hydroxyacyl CoA Dehydrogenases / deficiency*,  genetics
Anti-Inflammatory Agents / therapeutic use
HELLP Syndrome / complications
Infant, Newborn
Lipid Metabolism, Inborn Errors / complications*,  diet therapy
Lung / pathology
Methylprednisolone / therapeutic use
Multienzyme Complexes / deficiency*,  genetics
Respiratory Distress Syndrome, Newborn / etiology*,  pathology
Respiratory Function Tests
Reg. No./Substance:
0/Anti-Inflammatory Agents; 0/Multienzyme Complexes; 0/mitochondrial fatty acid beta-oxidation trifunctional protein; 83-43-2/Methylprednisolone; EC 3-hydroxyacyl CoA dehydrogenase; EC CoA Dehydrogenases

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