Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
Christensen
E
E
Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
Brandt
N J
NJ
Schmalbruch
H
H
Kamieniecka
Z
Z
Hertz
B
B
Ruitenbeek
W
W
D000143:Acids / Q000652:urine*; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002331:Carnitine / Q000097:blood / Q000652:urine; D030401:Cytochrome-c Oxidase Deficiency; D004827:Epilepsy / Q000378:metabolism; D006801:Humans; D007223:Infant; D007700:Kinetics; D008297:Male; D009132:Muscles / Q000201:enzymology*; D019814:Myristic Acid; D009227:Myristic Acids / Q000378:metabolism; D010084:Oxidation-Reduction
D000143:Acids; D009227:Myristic Acids; D019814:Myristic Acid; D044944:Acyl-CoA Dehydrogenases; D002331:Carnitine