Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy

Kazuma Koda, M.D.1), Mariko Akaogi, M.D.1), Hiroaki Sekiya, M.D.1)2), Yoshihisa Otsuka, M.D.1), Yukihiro Yoneda, M.D.1), Atsuo Kikuchi, M.D., Ph.D.3), Shigeo Kure, M.D., Ph.D.3) and Yasufumi Kageyama, M.D.1)

1) Department of Neurology, Hyogo Prefectural Amagasaki General Medical Center
2) Division of Neurology Kobe University Graduate School of Medicine
3) Department of Pediatrics, Tohoku University Graduate School of Medicine

A 49-year-old woman with intellectual disability and a food preference for fried chicken entered a nursing home. After nursing home diet, she developed episodic attacks of hyperammonemic encephalopathy. Her characteristic food preference and the negative results for brain and liver imaging studies suggested urea cycle disorder. A high plasma citrulline level on amino acid analysis and a genetic test for citrine gene confirmed a citrine deficiency (adult-onset type II citrullinemia). Although a low-carbohydrate diet was insufficient, a combination therapy of a low-carbohydrate diet and a medium-chain triglyceride (MCT) oil was effective. MCT oil may be a promising treatment option.
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(CLINICA NEUROL, 61: 200|203, 2021)
key words: CTLN2, citrine deficiency, medium-chain triglyceride, MCT oil, intellectual disability

(Received: 11-Jul-20)