Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy
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Summary
High concentrations of butyryl/isobutyrylcarnitine (C4-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.
Keywords
Glucose Internal Medicine Differential Diagnosis Metabolic Disease Galactose
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Supplementary material
10545_2006_ESM_342.pdf (262 kb)
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy
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© SSIEM and Springer 2006