Electronic letter
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene
Wuh-Liang Hwua, Keiko Kobayashib, Ya-Hui Huc, Naoki Yamaguchib, Takeyori Sahekib, Shi-Ping Choua, Jing-Houng Wangca Department of
Paediatrics, Medical Genetics and General Medicine, National Taiwan
University Hospital and National Taiwan University College of Medicine,
Tapei 100, Taiwan, ROC, b Department of Biochemistry, Faculty of Medicine,
Kagoshima University, Kagoshima 890-8520, Japan, c Department
of Internal Medicine, Chang Gung Memorial Hospital, Kaohsiung, Taiwan,
ROC
Correspondence to: Dr Hwu, hwu@ha.mc.ntu.edu.tw
| The first 150 words of the full text of this article appear below. |
 |
Article |
|---|
EDITOR
Classical citrullinaemia (CTLN1) is a rare
metabolic disease caused by the deficiency of argininosuccinate
synthetase (ASS, E.C.6.3.4.5), which usually has its onset in neonates
or young infants.1 These patients may present with acute
onset of disturbance of consciousness and hyperammonaemia. ASS activity is very low in all tissues tested and over 30 mutations of the ASS gene
have been identified in about 50 CTLN1 patients.2 However,
in Japan, many cases with adult onset type II citrullinaemia (CTLN2)
have been reported.3 A previous study in CTLN2 showed a
specific deficiency of ASS protein in the liver, but no ASS gene
mutation could be found.4 Recently, the gene responsible for CTLN2 was identified by homozygosity mapping.5 This
gene, SLC25A13, encodes a putative calcium
dependent mitochondrial carrier protein (called citrin). A loss of
organisation caused by the absence of functional citrin has been
proposed to lead to the reduction of ASS protein
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
- PubMed Citation
- Articles by Hwu, W.-L.
- Articles by Wang, J.-H.
- Pubmed/NCBI databases
GeneGEO ProfilesHomoloGeneUniGeneCompound via MeSHSubstance via MeSHHazardous Substances DB AMMONIAGenetics Home Reference
Topic Collections
-
Metabolic disorders
-
Paediatric oncology
-
Screening (oncology)
-
Surgical diagnostic tests
-
Clinical diagnostic tests
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
