Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 2279  
 Home | Login 
About Editorial board Articlesmenu-bullet NSI Publicationsmenu-bullet Search Instructions Online Submission Subscribe Videos Etcetera Contact
  Navigate Here 
 »   Next article
 »   Previous article
 »   Table of Contents

 Resource Links
 »   Similar in PUBMED
 »  Search Pubmed for
 »  Search in Google Scholar for
 »Related articles
 »   Citation Manager
 »   Access Statistics
 »   Reader Comments
 »   Email Alert *
 »   Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded77    
    Comments [Add]    
    Cited by others 5    

Recommend this journal


Year : 2015  |  Volume : 63  |  Issue : 2  |  Page : 220--222

Citrin deficiency: A treatable cause of acute psychosis in adults

1 Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India
2 Division of Metabolism, University Children's Hospital, Zurich, Switzerland
3 Department of Health Science, Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan

Correspondence Address:
Dr. Sunita Bijarnia-Mahay
Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.156285

Rights and Permissions

Citrin deficiency is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. The disorder manifests either as neonatal intra-hepatic cholestasis or occurs in adulthood with recurrent hyperammonemia and neuropsychiatric disturbances. It has a high prevalence in the East Asian population, but is actually pan-ethnic. We report the case of a 26-year-old male patient presenting with episodes of abnormal neuro-psychiatric behavior associated with hyperammonemia, who was diagnosed to be having citrin deficiency. Sequencing of the SLC25A13 gene revealed two novel mutations, a single base pair deletion, c. 650delT (p.Phe217Serfs*33) in exon 7, and a missense mutation, c. 869T>C (p.Ile290Thr) in exon 9. Confirmation of the diagnosis allowed establishment of the appropriate management. The latter is an essential pre-requisite for obtaining a good prognosis as well as for family counseling.


Print this article     Email this article

Online since 20th March '04
Published by Wolters Kluwer - Medknow