• Shin Kadono, Dai Miyawaki, Ayako Goto, Kaoru Hirai, Shoko Sakamoto, Hiroki Hama, Sayaka Nishiura, Takashi Hamazaki, and Koki Inoue.
• Department of Neuropsychiatry, Osaka Metropolitan University (Osaka City University) Graduate School of Medicine, Abeno-ku, Osaka, Japan.
• Medicine (Baltimore). 2023 Feb 22; 102 (8): e33055e33055.

RationaleOrnithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD. However, there are no reports of OTC deficiency comorbid with ASD and ADHD.Patient ConcernsThe patient is 17-year-old girl diagnosed with OTC deficiency at 3 years of age. She had behavioral problems since childhood, including depressed mood, irritability, and impulsive behavior; however, they were considered OTC-mediated nonspecific psychiatric symptoms. Therefore, the patient had not been appropriately assessed for ASD and ADHD. She presented with depressed mood and self-harm at 17 years of age.DiagnosesWe diagnosed her with ASD and ADHD based on her medical history and semistructured interviews.InterventionsWe focused her ASD and ADHD traits and discussed strategies with her for better adaptive living.OutcomesOur interventions resulted in her better social adjustment.LessonsPhysicians should consider the possibility of comorbid ASD and ADHD in individuals with OTC, facilitating appropriate and intervention for better outcomes.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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