
Recurrent somnolence in a 17-month-old infant: Late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe)
Keywords: Urea cycle disorder; OTC (ornithine transcarbamylase) deficiency; Recurrent somnolence; Hyperammonemiabw, body weight; cCT, cerebral computed tomography; cMRI, cerebral magnetic resonance imaging; EEG, electroencephalogram; OTC, ornithine transcarbamylase