RT Journal Article
SR Electronic
T1 Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 447
OP 450
DO 10.1183/09031936.06.00139205
VO 28
IS 2
A1 M. K. H. Tong
A1 C-S. Lam
A1 T. W. L. Mak
A1 M. Y. P. Fu
A1 S-H. Ng
A1 R. J. A. Wanders
A1 N. L. S. Tang
YR 2006
UL http://erj.ersjournals.com/content/28/2/447.abstract
AB Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a key enzyme catalysing the dehydrogenation of long-chain fatty acids in mitochondrial β-oxidation. VLCAD deficiency is a genetic disorder that commonly presents in infancy or childhood with episodes of hypoketotic hypoglycaemia, cardiomyopathy and liver dysfunction. The present study reports an 18-yr-old Chinese female who presented with acute hypercapnic respiratory failure and rhabdomyolysis after a period of prolonged fasting and exertion. VLCAD deficiency was confirmed with decreased VLCAD activity in cultured fibroblasts. The patient completely recovered with supportive care. Pulmonary function tests after the acute episode showed evidence of chronic subclinical respiratory muscle weakness. In conclusion, this rare metabolic disorder should be considered in patients presenting with unexplained acute respiratory paralysis and failure.