Abstract | BACKGROUND: Adult-onset type II citurullinemia is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia resulting from high plasma citrulline and ammonium levels. This report describes a rare case of adult-onset type II citurullinemia that occurred in a patient who only had the heterozygote mutation, and had never presented with any symptoms before surgery. CASE PRESENTATION: CONCLUSION: Abdominal surgery involving the reconstruction of digestive tract alters the mechanisms of absorption and/or metabolism such that the symptoms of adult-onset type II citurullinemia may arise. Liver transplantation should be performed if all conservative treatments are unsuccessful.
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Authors | Ryuji Komine, Keisuke Minamimura, Akihiro Watanabe, Atushi Shimizu, Kazuhiko Mori, Toru Hirata, Takashi Kobayashi, Sotaro Akatsuka |
Journal | Surgical case reports
(Surg Case Rep)
Vol. 4
Issue 1
Pg. 11
(Jan 25 2018)
ISSN: 2198-7793 [Print] Germany |
PMID | 29368097
(Publication Type: Journal Article)
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