Journal of Clinical Pediatrics >
Genetic screening and early intervention in neonatal hyperammonemia caused by urea cycle disorder
Received date: 2023-01-04
Online published: 2023-04-07
Objective To explore the prevalence of neonatal urea circulation disorder (UCD) by genetic screening and achieve the early identification and intervention of neonatal hyperammonemia (NHA) caused by UCD in Guangdong province. Methods The gene screening data of 38159 neonates from multiple centers in Guangdong region from 2019 to 2022 were collected, and the gene positive rate of UCD neonates was calculated. Meanwhile, the clinical intervention and efficacy of 9 children with UCD related NHA were further analyzed. Results The gene positive rate of UCD in newborns in Guangdong was 0.472%, and citrin deficiency was the commonest (0.314%). All three cases of citrin deficiency had homozygous variation of c.852_855delTATG in SLC25A13 gene. Due to the different diagnosis time and clinical intervention period, the prognosis of children is also different. Six children with UCD related NHA had early onset and advanced progression. After active early symptomatic treatment, two patients with citrullinemia typeⅠimproved, four patients died and one was lost to follow-up. Conclusions The etiology of NHA is complex and diverse, and UCD is the commonest. Its clinical manifestations lack specificity, and it is easy to be missed and misdiagnosed. Early blood and urine metabolism screening combined with UCD-related gene screening can achieve early identification, diagnosis and treatment of UCD-related NHA, and can guide genetic counseling and prenatal diagnosis of another pregnancy.
Yinchun ZHANG , Wenhui MO , Bo BAI , Jinmian CHEN , Congcong SHI , Xia GU , Xin XIAO , Hu HAO . Genetic screening and early intervention in neonatal hyperammonemia caused by urea cycle disorder[J]. Journal of Clinical Pediatrics, 2023 , 41(4) : 259 -265 . DOI: 10.12372/jcp.2023.22e1714
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