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, Mariko Akaogi, Hiroaki Sekiya, Yoshihisa Otsuka, Yukihiro Yoneda, Atsuo Kikuchi, Shigeo Kure, Yasufumi Kageyama

研究成果: Article査読

抄録

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.

本文言語English
ページ(範囲)200-203
ページ数4
ジャーナルClinical Neurology
61
3
DOI
出版ステータスPublished - 2021

ASJC Scopus subject areas

  • 臨床神経学

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