Adult-onset urea cycle disorder triggered by drug-induced liver injury: A case report

• Published in: Kanzo Vol. 66; no. 3; pp. 86 - 92
• Main Authors: Nagai, Hidenari, Momiyama, Koichi, Matsuda, Takahisa, Mori, Kunihide, Nagumo, Hideki, Daido, Yasuko, Kobayashi, Kojiro, Iwabuchi, Kirika, Yoshimine, Naoyuki, Ogino, Yu, Matsui, Teppei, Mukozu, Takanori, Wakui, Noritaka
• Format: Journal Article
• Language: Japanese
• Published: The Japan Society of Hepatology 01.03.2025; 一般社団法人 日本肝臓学会
• Subjects: adult-onset urea cycle disorder; consciousness disorder; donepezil; drug-induced liver injury; hyperammonemia; ドネペジル; 意識障害; 薬物性肝障害; 遅発性尿素サイクル異常症; 高アンモニア血症
• ISSN: 0451-4203; 1881-3593
• DOI: 10.2957/kanzo.66.86

An 80-year-old woman from South Asia with insomnia and cognitive impairment was prescribed donepezil. However, she developed erythema and loss of consciousness and was admitted to our facility for further investigation and treatment. At arrival, she had a Glasgow coma scale score of 8 (E1V3M4), elevated liver function tests, and a positive drug-induced lymphocyte stimulation test for donepezil, with no significant findings by computed tomography. She was diagnosed with impaired consciousness due to drug-induced liver injury. The discontinuation of donepezil led to improvement in liver function and consciousness. However, elevated serum ammonia levels during treatment indicated an amino acid metabolism disorder. The quantification of amino acid fractions revealed reduced citrulline and arginine and increased ornithine levels, indicating an adult-onset urea cycle disorder triggered by drug-induced liver injury. She regained consciousness and was subsequently discharged following protein restriction.