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Flumazenil Responsive Ornithine Transcarbamylase Deficiency Encephalopathy: Clinical and Radiographic Features
Author(s) -
Meyer Michael A.,
Gavrilova Ralitza H.
Publication year - 2002
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/j.1552-6569.2002.tb00100.x
Subject(s) - ornithine transcarbamylase deficiency , medicine , flumazenil , somnolence , ornithine carbamoyltransferase , encephalopathy , ornithine transcarbamylase , hyperammonemia , orotic acid , endocrinology , ornithine , urea cycle , adverse effect , antagonist , arginine , biochemistry , chemistry , receptor , amino acid
A 22‐year‐old woman with a negative urine drug screen and somnolence rapidly reversed by intravenous flumazenil was found to have elevated ammonia levels and punctate calcifications of the subcortical frontal white matter. Abnormally high levels of orotic acid were found in serum and urine, confirming the diagnosis of ornithine transcarbamylase deficiency. Although computed tomography findings are non‐specific, young patients with unexplained hyperammonemic states of somnolence reversed by flumazenil should be screened for this X‐linked recessive metabolic disorder.