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Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy
Author(s) -
Merinero B.,
PérezCerdá C.,
Ruiz Sala P.,
Ferrer I.,
García M. J.,
Martínez Pardo M.,
BelangerQuintana A.,
Mota J. L.,
MartinHernández E.,
VianeySaban C.,
Bischoff C.,
Gregersen N.,
Ugarte M.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0342-8
Subject(s) - scad , metabolite , asymptomatic , medicine , encephalopathy , point mutation , carnitine , endocrinology , biology , mutation , biochemistry , gene , myocardial infarction
Summary 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.