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 CASE REPORT
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
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.156285

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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.






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