Hyperornithinemia-hyperammonia-hypercitrullinuria syndrome(HHH syndrome)is a rare autosomal recessive urea cycle disorder.A patient with HHH syndrome was admitted to the hospital with se-vere picky eating,anorexia of high-protein foods and exercise regression.Multiple laboratory tests showed high transaminase,elevated blood ammonia and abnormal coagulation function.The whole exon gene test showed that the child carried a homozygous mutation of SLC25A15 gene c.521C＞G(p.S174x).Both parents carried the heterozygous mutation of the gene,and the child improved after liver transplantation.For these patients,early he-maturia genetic metabolism and gene detection are recommended to save lives and improve quality of life.
关键词
高鸟氨酸血症-高氨血症-高同型瓜氨酸尿症/尿素循环障碍/SLC25A15基因/病例报告
Key words
Hyperornithinemia-hyperammonia-hyperisocitrullinuria/Disturbance of urea cycle/SLC25A15 gene/Case report
维普
万方数据