Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.
Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involving very long chain acyl-CoA dehydrogenase.
Largillière
C
C
Hopital Huriez, Lille, France, Department of Paediatrics, France.
Vianey-Saban
C
C
Fontaine
M
M
Bertrand
C
C
Kacet
N
N
Farriaux
J P
JP
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D002331:Carnitine / Q000627:therapeutic use; D018752:Diet, Fat-Restricted; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008928:Mitochondria / Q000201:enzymology; D017240:Mitochondrial Myopathies / Q000201:enzymology* / Q000628:therapy
D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine