Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia.

ABSTRACT: Congenital portosystemic shunts (CPSSs) are often associated with life-threatening systemic complications, which may be detected by identifying hypergalactosemia in newborn screening (NBS). However, diagnosing CPSS at an early stage is not easy. The purpose of this study was to predict CPSS early using screening values and general blood tests. The medical records of 153 patients with hypergalactosemia who underwent NBS in Saitama Prefecture between 1 December 1997 and 31 October 2023 were retrospectively analyzed. We provided the final diagnosis of the analyzed patients. Of the 153 patients, 44 (29%) were in the CPSS group and 83 (54%) were in the transient galactosemia group. Using the initial screening items and the six blood test items, we attempted to extract a CPSS group from the tran

SUBMITTER: Suzuki-Ajihara S 

PROVIDER: S-EPMC12372138 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature