Citrin deficiency: A treatable cause of acute psychosis in adults.

Abstract

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.Phe217SerfsFNx0133) 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.

• Authors: Sunita Bijarnia-Mahay, Johannes Häberle, Véronique Rüfenacht, Yosuke Shigematsu, Renu Saxena, Ishwar C Verma
• Journal: Neurology India (Neurol India) 2015 Mar-Apr Vol. 63 Issue 2 Pg. 220-2 ISSN: 0028-3886 [Print] India
• PMID: 25947987 (Publication Type: Journal Article)