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Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation
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Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation
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Journal Article
Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation
2017
Overview
DIAGNOSIS AND SUMMARY This patient has ethylmalonic encephalopathy (EE)3, a severe disorder affecting mitochondria and blood vessels that typically presents with central nervous system disease, gastrointestinal dysfunction, retinal vessel tortuosity, petechiae, orthostatic acrocyanosis, and the production of ethylmalonic acid (EMA). First described in a neonate with hypotonia who subsequently developed a severe pyramidal disorder, EE was initially labeled as a branched-chain acyl-CoA dehydrogenase defect (1). [...]of butyryl-CoA dehydrogenase inhibition, there is accumulation of butyryl-CoA and isobutyryl-CoA, which conjugate with carnitine to produce butyrylcarnitine and isobutyrylcarnitine, respec- tively.
Publisher
Oxford University Press
