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 β-oxidation of long-chain fatty acids. Three of the patients were homozygous for the 'common' 1528G>C mutation in the α-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.
We’re sorry, something doesn't seem to be working properly.
Please try refreshing the page. If that doesn't work, please contact support so we can address the problem.
REFERENCES
Bellingan GJ (2002) The pulmonary physician in critical care 6: the pathogenesis of ALI/ARDS. Thorax 57: 540–546.
Costil J, Cloup M, Leclerc F, et al (1995) Acute respiratory distress syndrome in children. Pediatr Pulmonol Suppl. 11: 106–107.
Goh AY, Chan PW, Lum LC, Roziah M (1998) Incidence of acute respiratory distress syndrome. A comparison of two definitions. Arch Dis Child 79: 256–259.
IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJA (1996) Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Clin Invest 98: 1028–1033.
Tyni T, Majander A, Kalimo H, Rapola J, Pihko H (1996) Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. Neuromusc Disord 6: 327–337.
Tyni T, Pihko H (1999) Long-chain 3-hydroxy-CoA dehydrogenase deficiency. Acta Paediatr 88: 237–245.
Ventura FV, Ruiter JP, IJlst L, Almeida IT, Wanders RJA (1996) Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid /3-oxidation intermediates on the oxidative phosphorylation system. J Inherit Metab Dis 19: 161–164.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Lundy, C.T., Shield, J.P.H., Kvittingen, E.A. et al. Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies. J Inherit Metab Dis 26, 537–541 (2003). https://doi.org/10.1023/A:1025995813914
Issue Date:
DOI: https://doi.org/10.1023/A:1025995813914