Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
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.
Merinero
B
B
Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad Ciencias, Universidad Autónoma de Madrid, 28049, Madrid, Spain. mugarte@cbm.uam.es
Pérez-Cerdá
C
C
Ruiz Sala
P
P
Ferrer
I
I
García
M J
MJ
Martínez Pardo
M
M
Belanger-Quintana
A
A
de la Mota
J L
JL
Martin-Hernández
E
E
Vianey-Saban
C
C
Bischoff
C
C
Gregersen
N
N
Ugarte
M
M
D001927:Brain Diseases / Q000175:diagnosis*; D044926:Butyryl-CoA Dehydrogenase / Q000235:genetics*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D006801:Humans; D008314:Malonates / Q000652:urine; D024101:Mitochondrial Proteins / Q000235:genetics; D009422:Nervous System Diseases; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics
C483228:ETHE1 protein, human; D008314:Malonates; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins; C020381:isobutyryl-1-carnitine; C427065:butyrylcarnitine; C038080:ethylmalonic acid; D044926:Butyryl-CoA Dehydrogenase; D002331:Carnitine