title: 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.affiliation: Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Sunita
authors.initials: S
authors.lastname: Bijarnia-Mahay
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Véronique
authors.initials: V
authors.lastname: Rüfenacht
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: Ishwar C
authors.initials: IC
authors.lastname: Verma