A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder

Abstract Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was ini...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2014-09, Vol.36 (8), p.734-737
Hauptverfasser:	Kim, Se Hee, Lee, Jin Sook, Lim, Byung Chan, Kim, Ki Joong, Hwang, Yong Seoung, Park, June Dong, Cheon, Jung-Eun, Kim, In-One, Kim, Boong-Nyun, Chae, Jong-Hee
Format:	Artikel
Sprache:	eng
Schlagworte:	Attention Deficit Disorder with Hyperactivity - diagnosis Attention deficit-hyperactivity disorder Brain - pathology Child Female Female carrier Heterozygote Humans Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Mutation Neurology Ornithine Carbamoyltransferase - genetics Ornithine carbamoyltransferase deficiency Ornithine Carbamoyltransferase Deficiency Disease - diagnosis Ornithine Carbamoyltransferase Deficiency Disease - pathology Stroke
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