Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation

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 prod...

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Bibliographic Details
Published in:Clinical chemistry (Baltimore, Md.) Md.), 2017-11, Vol.63 (11), p.1771-1773
Main Authors: Peake, Roy W A, Rodan, Lance H
Format: Article
Language:English
Subjects:
Aciduria
Brain Diseases, Metabolic, Inborn - diagnosis
Brain Diseases, Metabolic, Inborn - genetics
Central nervous system
Child, Preschool
Dehydrogenase
Dehydrogenases
Electroencephalography
Female
Humans
Malonates - urine
Medical screening
Mitochondrial Proteins - genetics
Nucleocytoplasmic Transport Proteins - genetics
Purpura - diagnosis
Purpura - genetics
Skin
Urine
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Summary: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.
ISSN:0009-9147
1530-8561
DOI:10.1373/clinchem.2017.279497