Clinical characteristics, therapy and follow-up of adult-onset type Ⅱ citrullinemia: one case report
10.3760/cma.j.issn.1006-7876.2018.07.010
- VernacularTitle:成人Ⅱ型瓜氨酸血症一例临床特征、治疗及随访分析
- Author:
Huajing YOU
1
;
Chao WU
;
Xunhua LI
Author Information
1. 510080广州,中山大学附属第一医院神经科,国家临床重点专科,广东省神经系统重大疾病诊治工程技术研究中心
- Keywords:
Citrullinemia;
Mental and behavior disorder;
Arginine;
Follow-up
- From:
Chinese Journal of Neurology
2018;51(7):533-539
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the diagnosis and therapy of adult-onset type Ⅱ citrullinemia (CTLN2) and compare the clinical data before and after treatment.Methods The 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.Results The 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 SLC 25A13 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.Conclusions The 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.
