高鸟氨酸血症-高氨血症-高同型瓜氨酸尿症综合征 1例报告并文献复习.

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 severe 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 hematuria genetic metabolism and gene detection are recommended to save lives and improve quality of life [ABSTRACT FROM AUTHOR]