Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet

Takayuki Kogure, Yasuteru Kondo, Eiji Kakazu, Masashi Ninomiya, Osamu Kimura, Nao Kobayashi, Tooru Shimosegawa

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

We report three cases of adult-onset type II citrullinemia (CTLN2) treated with different therapies including one case successfully treated with p.o. administration of sodium pyruvate and low-carbohydrate diet. Although recent advances in liver transplantation have enabled successful treatment of patients with CTLN2, several issues concerning liver transplantation remain. Further, there is still an urgent need for therapies that do not rely on liver transplantation. The first case was a 41-year-old man who developed impaired consciousness in 1992. The patient was treated with conventional therapy for hepatic encephalopathy and died of severe brain edema. The second case was a 31-year-old man who suddenly presented a syncope-like attack with hyperammonemia. He was treated with carbohydrate-restricted diet but the encephalopathy could not be controlled, and he received emergency living donor liver transplantation. The third patient was a 67-year-old man who developed abnormal behavior with hyperammonemia. He has remained well with oral sodium pyruvate and a low-carbohydrate diet without receiving liver transplantation.

Original languageEnglish
Pages (from-to)707-712
Number of pages6
JournalHepatology Research
Volume44
Issue number6
DOIs
Publication statusPublished - 2014 Jun

Keywords

  • Adult-onset type II citrullinemia
  • Hyperammonemia
  • Sodium pyruvate

ASJC Scopus subject areas

  • Hepatology
  • Infectious Diseases

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