- Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
Journal of inherited metabolic disease (2006-08-15)
B Merinero, C Pérez-Cerdá, P Ruiz Sala, I Ferrer, M J García, M Martínez Pardo, A Belanger-Quintana, J L de la Mota, E Martin-Hernández, C Vianey-Saban, C Bischoff, N Gregersen, M Ugarte
PMID16906473
RÉSUMÉ
High concentrations of butyryl/isobutyrylcarnitine (C(4)-carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different genetic entities, and further investigations are required to differentiate the possible underlying defect. Here we report three unrelated cases, two neurologically affected and one asymptomatic, with this abnormal metabolite pattern due either to mutations in the ETHE1 gene or to a short-chain acyl-CoA dehydrogenase (SCAD) defect.
MATÉRIAUX