Case report: An adult‑onset type II citrin deficiency patient in the emergency department

Tang,Lujia; Chen,Liang; Wang,Hairong; Dai,Lihua; Pan,Shuming

doi:10.3892/etm.2016.3298

Case report: An adult‑onset type II citrin deficiency patient in the emergency department

Authors:
- Lujia Tang
- Liang Chen
- Hairong Wang
- Lihua Dai
- Shuming Pan
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Affiliations: Emergency Department, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, P.R. China
Published online on: April 27, 2016 https://doi.org/10.3892/etm.2016.3298
Pages: 410-414

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Abstract

Mutations in the solute carrier family 25 (SLC25A13) gene may result in neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult‑onset type II citrullinemia. These conditions are inherited in an autosomal recessive manner. The current case report describes a 43‑year‑old man who presented with sudden delirium and upper limb weakness. Upon admission, the patient was fully conscious and alert but later lost consciousness subsequent to a sudden convulsive seizure. Hyperammonemia was detected and analysis of the SLC25A13 gene identified an 851del4 mutation. Thus, the possibility of genetic disease should be considered as a potential cause of the symptoms of patients with altered states of consciousness, such as delirium and loss of consciousness, in cases where the cause of the disturbance is unknown.

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1.	Nagata N, Matsuda I and Oyanagi K: Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet. 39:228–229. 1991. View Article : Google Scholar : PubMed/NCBI
2.	Takahashi Y, Koyama S, Tanaka H, Arawaka S, Wada M, Kawanami T, Haga H, Watanabe H, Toyota K, Numakura C, et al: An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. Intern Med. 51:2131–2134. 2012. View Article : Google Scholar : PubMed/NCBI
3.	Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, et al: The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 22:159–163. 1999. View Article : Google Scholar : PubMed/NCBI
4.	Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, et al: SLC25A13 gene analysis in citrin deficiency: Sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. PLoS One. 8:e745442013. View Article : Google Scholar : PubMed/NCBI
5.	Kobayashi K, Saheki T and Song YZ: Citrin Deficiency. GeneReviews. Pagon RA, Bird TD, Dolan CR, Stephens K and Adam MP: (Seattle, WA). University of Washington. 2005.
6.	Honda S, Yamamoto K, Sekizuka M, Oshima Y, Nagai K, Hashimoto G, Kaneko H, Tomomasa T, Konno Y and Horiuchi R: Successful treatment of severe hyperammonemia using sodium phenylacetate powder prepared in hospital pharmacy. Biol Pharm Bull. 25:1244–1246. 2002. View Article : Google Scholar : PubMed/NCBI
7.	Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T and Tsui LC: Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Mol Cell Biol. 24:527–536. 2004. View Article : Google Scholar : PubMed/NCBI
8.	Ikeda S, Yazaki M, Takei Y, Ikegami T, Hashikura Y, Kawasaki S, Iwai M, Kobayashi K and Saheki T: Type II (adult onset) citrullinaemia: Clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry. 71:663–670. 2001. View Article : Google Scholar : PubMed/NCBI
9.	Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, Begum L, Mine T, Takagi S, Saheki T and Shinohara Y: A case of adult-onset type II citrullinemia-deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. Med Sci Monit. 12:CS13–CS15. 2006.PubMed/NCBI
10.	Yazaki M, Hashikura Y, Takei Y, Ikegami T, Miyagawa S, Yamamoto K, Tokuda T, Kobayashi K, Saheki T and Ikeda S: Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia. Liver Transpl. 10:550–554. 2004. View Article : Google Scholar : PubMed/NCBI
11.	Hirai I, Kimura W, Suto K, Fzjimoto H, Watanabe T, Fuse A, Kobayashi K, Iijima M, Saheki T, Nakatsuka T, et al: Living donor liver transplantation for type II citrullinemia from a heterozygous donor. Hepatogastroenterology. 55:2211–2216. 2008.PubMed/NCBI
12.	Kobayashi K and Saheki T: Molecular basis of citrin deficiency. Seikagaku. 76:1543–1559. 2004.(In Japanese). PubMed/NCBI
13.	Imamura Y, Kobayashi K, Shibatou T, Aburada S, Tahara K, Kubozono O and Saheki T: Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: A case report of siblings showing homozygous SLC25A13 mutation with and without the disease. Hepatol Res. 26:68–72. 2003. View Article : Google Scholar : PubMed/NCBI
14.	Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, et al: Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: Involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab. 81(Suppl 1): S20–S26. 2004. View Article : Google Scholar : PubMed/NCBI
15.	Yazaki M, Takei Y, Kobayashi K, Saheki T and Ikeda S: Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). Intern Med. 44:188–195. 2005. View Article : Google Scholar : PubMed/NCBI