Clinical and Gene Variation Analysis of 11 Cases of Neonatal Hyperammonemia
CUI Qingyang
LI Zhenzhen
CAO Yinli
SUN Yazhou
TANG Chenghe
ZHANG Chuan
Abstract：Objective To analyze the clinical features,gene variation and etiological classification of 11 neonates with hyperammonemia.Methods The clinical data,laboratory tests and gene testing results of 11 neonates with hyperammoniaemia admitted to the First Affiliated Hospital of Xinxiang Medical College and Gansu Provincial Maternity and Child-care Hospital were analyzed retrospectively from July 2016 to August 2022 and prenatal gene diagnosis was carried out for 2 regenerative families.Results All 11 children showed poor response.There were still convulsions,disturbance of consciousness and vomiting.Five children were ornithine carbamoyltransferase deficiency(OTCD)caused by OTC gene mutation,including large fragment deletion mutation,missense mutation and shear mutation.Four children were diagnosed as carbamyl phosphate synthase 1 deficiency(CPS1D)caused by CPS1 gene mutation,which were nonsense mutation,missense mutation and shear mutation respectively.One case was citrullinaemia type 1(CTLN1)caused by ASS1 gene mutation,which was a missense mutation.One case was transient hyperammonemia of the newborn(THAN)with negative genetic test.Conclusion Attention should be paid to the possibility of genetic diseases in clinical neonatal hyperammonemia.Timely genetic testing can provide a clear diagnosis,and active treatment with blood purification and liver transplantation can improve neurological development prognosis.
Keywords：hyperammonemianewbornornithine carbamyltransferase deficiencycarbamoyl phosphate synthetase 1 deficiencycitrullinemia type 1transient hyperammonemiagenesprenatal diagnosis
Publication Date：2024-11-15
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：5( 3845-3849 )