Literature DB >> 14606711

Hepatocellular carcinoma in a case of adult-onset type II citrullinemia.

Naoki Hagiwara1, Yoshiki Sekijima, Yo-ichi Takei, Shu-ichi Ikeda, Seiji Kawasaki, Keiko Kobayashi, Takeyori Saheki.   

Abstract

A 40-year-old woman was admitted with altered consciousness and hyperammonemia after she had delivered her first baby. DNA analysis of the citrin gene and enzymatic assay of argininosuccinate synthetase in the liver led to a diagnosis of adult-onset type II citrullinemia (CTLN2). She was also found to have hepatocellular carcinoma (HCC) and underwent palliative surgery consisting of partial liver section of the HCC. Delivery may be a trigger for the development of CTLN2, while certain pathologic conditions associated with citrin gene abnormality are likely to induce hepatocellular carcinoma in patients with this disorder.

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Year:  2003        PMID： 14606711     DOI： 10.2169/internalmedicine.42.978

Source DB:  PubMed          Journal:  Intern Med        ISSN： 0918-2918            Impact factor:   1.271


  10 in total

1.  Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.

Authors:  James M Wilson; Oleg A Shchelochkov; Renata C Gallagher; Mark L Batshaw
Journal:  Mol Genet Metab       Date:  2011-11-07       Impact factor: 4.797

2.  A case of adult-onset type II citrullinemia induced by hospital diet.

Authors:  Akira Ueda; Kazuhiko Okada; Terumi Takahara; Keiichi Iwasa; Kazuko Shinagawa; Akio Entani; Syuji Inatsuchi; Takayuki Ando; Haruka Fujinami; Kazuto Tajiri; Yoshiharu Tokimitsu; Kohei Ogawa; Takayoshi Miyazono; Takako Miyazaki; Jun Murakami; Ayumu Hosokawa; Satoshi Yasumura; Masami Minemura; Takahiko Kudo; Toshiro Sugiyama
Journal:  Clin J Gastroenterol       Date:  2010-12-17

Review 3.  Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Authors:  Ayelet Erez; Oleg A Shchelochkov; Sharon E Plon; Fernando Scaglia; Brendan Lee
Journal:  Am J Hum Genet       Date:  2011-04-08       Impact factor: 11.025

4.  Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Authors:  Ayako Tabata; Jian-Sheng Sheng; Miharu Ushikai; Yuan-Zong Song; Hong-Zhi Gao; Yao-Bang Lu; Fumihiko Okumura; Mikio Iijima; Kozo Mutoh; Shosei Kishida; Takeyori Saheki; Keiko Kobayashi
Journal:  J Hum Genet       Date:  2008-04-05       Impact factor: 3.172

Review 5.  AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.

Authors:  Takeyori Saheki; Mitsuaki Moriyama; Aki Funahashi; Eishi Kuroda
Journal:  Biomolecules       Date:  2020-07-24

Review 6.  Management of late onset urea cycle disorders-a remaining challenge for the intensivist?

Authors:  S Redant; A Empain; A Mugisha; P Kamgang; R Attou; P M Honoré; D De Bels
Journal:  Ann Intensive Care       Date:  2021-01-06       Impact factor: 6.925

7.  Reduced carbohydrate intake in citrin-deficient subjects.

Authors:  T Saheki; K Kobayashi; M Terashi; T Ohura; Y Yanagawa; Y Okano; T Hattori; H Fujimoto; K Mutoh; Z Kizaki; A Inui
Journal:  J Inherit Metab Dis       Date:  2008-04-14       Impact factor: 4.750

8.  The arginine metabolome in acute lymphoblastic leukemia can be targeted by the pegylated-recombinant arginase I BCT-100.

Authors:  Carmela De Santo; Sarah Booth; Ashley Vardon; Antony Cousins; Vanessa Tubb; Tracey Perry; Boris Noyvert; Andrew Beggs; Margaret Ng; Christina Halsey; Pamela Kearns; Paul Cheng; Francis Mussai
Journal:  Int J Cancer       Date:  2017-12-26       Impact factor: 7.396

9.  Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong.

Authors:  S C Chong; P Lo; C W Chow; L Yuen; W C W Chu; T Y Leung; J Hui; F Scaglia
Journal:  Mol Genet Metab Rep       Date:  2018-09-01

10.  A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?

Authors:  Jiayi He; Jianling Zhang; Xuesong Li; Hong Wang; Cui Feng; Feng Fang; Sainan Shu
Journal:  Front Pediatr       Date:  2019-09-18       Impact factor: 3.418
  10 in total

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