Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.

ABSTRACT:

Objectives

To investigate genotype-phenotype characteristics and long-term prognosis of neonatal carbamoyl phosphate synthetase 1 (CPS1) deficiency among children through newborn screening in Zhejiang province.

Methods

The clinical and follow-up data of children with CPS1 deficiency detected through neonatal screening and confirmed by tandem mass spectrometry and genetic testing in Zhejiang Province Newborn Disease Screening Center from September 2013 to August 2023 were retrospectively analyzed.

Results

A total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and genetic testing. Ten different variations of CPS1 genewere identified in genetic testing, including 2 known pathogenic variations (c.2359C>T

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC10764181 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature