title: Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
abstract: 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.
authors: Departments of Child Health and Clinical Biochemistry, Royal Belfast Hospitalfor Sick Children, Belfast.
authors: C T
authors: CT
authors: Lundy
authors: J P H
authors: JP
authors: Shield
authors: E A
authors: EA
authors: Kvittingen
authors: O J
authors: OJ
authors: Vinorum
authors: E R
authors: ER
authors: Trimble
authors: A A M
authors: AA
authors: Morris
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D005260:Female; D017359:HELLP Syndrome / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D008168:Lung / Q000473:pathology; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics; D011247:Pregnancy; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology* / Q000473:pathology; D012129:Respiratory Function Tests
chemical_list: D000893:Anti-Inflammatory Agents; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D063991:Mitochondrial Trifunctional Protein; D008775:Methylprednisolone