Sudden development of adult-onset type II citrullinemia after total gastrectomy: a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Ryuji Komine, Keisuke Minamimura, Akihiro Watanabe, Atushi Shimizu, Kazuhiko Mori, Toru Hirata, Takashi Kobayashi, Sotaro Akatsuka

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: A 56-year-old man underwent a total gastrectomy for stomach cancer. On postoperative Day 13, he suddenly developed presyncope, and blood tests showed hyperammonemia and high levels of serum citrulline. He was diagnosed with hepatic encephalopathy. DNA analysis revealed a heterozygote mutation in Solute Carrier Family 25. Although the patient received a conservative treatment, episodes of loss of consciousness and abnormality of behavior repeatedly occurred. 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. More... »

PAGES

11

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s40792-018-0420-9

DOI

http://dx.doi.org/10.1186/s40792-018-0420-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100620609

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29368097


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