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- W3030347534 abstract "ObjectiveTo analyze the diagnosis and therapy of adult-onset type Ⅱ citrullinemia (CTLN2) and compare the clinical data before and after treatment.MethodsThe clinical data of one patient of CTLN2 from Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University on 9th December 2015 were collected. Treatment plan was formulated and adjusted by long-term follow-up.ResultsThe patient was a 23-year-old male, complaining of recurrent mental and behavior disorders. MMSE score was 16. Blood transaminase, ammonia and citrulline were elevated and abdomen CT showed fatty liver disease. Cranial MRI showed encephaledema and SLC25A13 gene analysis showed 851-854delGTAT homozygous mutation. Arginine was given for treatment and reduced gradually. In two years of follow-up, the patient had no longer suffered from mental and behavior disorders. Blood transaminase and ammonia remained normal.ConclusionsThe diagnosis of CTLN2 should be considered when a patient suffers from recurrent mental and behavior disorders, elevated blood transaminase and ammonia. Arginine along with high protein, high fat and low carbohydrates diet can improve prognosis effectively.Key words: Citrullinemia; Mental and behavior disorder; Arginine; Follow-up" @default.
- W3030347534 created "2020-06-05" @default.
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- W3030347534 date "2018-07-08" @default.
- W3030347534 modified "2023-09-23" @default.
- W3030347534 title "Clinical characteristics, therapy and follow-up of adult-onset type II citrullinemia: one case report" @default.
- W3030347534 doi "https://doi.org/10.3760/cma.j.issn.1006-7876.2018.07.010" @default.
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