Article
[A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy].
Rinsho shinkeigaku = Clinical neurology - 25 Mar 2021
Koda Kazuma, Akaogi Mariko, Sekiya Hiroaki, Otsuka Yoshihisa, Yoneda Yukihiro, Kikuchi Atsuo, Kure Shigeo, Kageyama Yasufumi
Abstract excerpt
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...
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