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Volume 11
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10.3390/ijns11030061
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

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

by
Sayaka Suzuki-Ajihara
1,2,
Ikuma Musha
1,2,
Masato Arao
1,
Koki Mori
3,
Shunsuke Fujibayashi
4,
Ihiro Ryo
4,
Tomotaka Kono
4,
Asako Tajima
4,
Hiroshi Mochizuki
4,
Atsuko Imai-Okazaki
5,
Ryuichiro Araki
6,
Chikahiko Numakura
1,2,7 and
Akira Ohtake
1,2,7,*
1
Department of Pediatrics, Saitama Medical University, Saitama 350-0495, Japan
2
Department of Clinical Genomics, Saitama Medical University, Saitama 350-0495, Japan
3
Department of Clinical Laboratory, Saitama Children’s Medical Center, Saitama 330-8777, Japan
4
Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama 330-8777, Japan
5
Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan
6
Medical Education Center, Saitama Medical University, Saitama 350-0495, Japan
7
Center for Intractable Diseases, Saitama Medical University Hospital, Saitama 350-0495, Japan
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2025, 11(3), 61; https://doi.org/10.3390/ijns11030061 (registering DOI)
Submission received: 25 June 2025 / Revised: 1 August 2025 / Accepted: 1 August 2025 / Published: 7 August 2025
(This article belongs to the Collection Newborn Screening in Japan)
Versions Notes

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 transient galactosemia group. Finally, a model for CPSS prediction was established. From multiple logistic regression analysis, filtered blood galactose-1 phosphate/galactose, serum total bile acid, and ammonia were adopted as explanatory variables for the prediction model. If the cut-off value for predicted disease probability value (P) was >0.357, CPSS was identified with 86.4% sensitivity (95%CI 72.6–94.8%) and 81.9% specificity (95%CI 72.0–89.5%). This predictive model might allow prediction of CPSS and early intervention.
Keywords: congenital portosystemic shunt; hypergalactosemia; newborn screening; galactose-1 phosphate/galactose; total bile acid; ammonia congenital portosystemic shunt; hypergalactosemia; newborn screening; galactose-1 phosphate/galactose; total bile acid; ammonia

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MDPI and ACS Style

Suzuki-Ajihara, S.; Musha, I.; Arao, M.; Mori, K.; Fujibayashi, S.; Ryo, I.; Kono, T.; Tajima, A.; Mochizuki, H.; Imai-Okazaki, A.; et al. Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia. Int. J. Neonatal Screen. 2025, 11, 61. https://doi.org/10.3390/ijns11030061

AMA Style

Suzuki-Ajihara S, Musha I, Arao M, Mori K, Fujibayashi S, Ryo I, Kono T, Tajima A, Mochizuki H, Imai-Okazaki A, et al. Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia. International Journal of Neonatal Screening. 2025; 11(3):61. https://doi.org/10.3390/ijns11030061

Chicago/Turabian Style

Suzuki-Ajihara, Sayaka, Ikuma Musha, Masato Arao, Koki Mori, Shunsuke Fujibayashi, Ihiro Ryo, Tomotaka Kono, Asako Tajima, Hiroshi Mochizuki, Atsuko Imai-Okazaki, and et al. 2025. "Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia" International Journal of Neonatal Screening 11, no. 3: 61. https://doi.org/10.3390/ijns11030061

APA Style

Suzuki-Ajihara, S., Musha, I., Arao, M., Mori, K., Fujibayashi, S., Ryo, I., Kono, T., Tajima, A., Mochizuki, H., Imai-Okazaki, A., Araki, R., Numakura, C., & Ohtake, A. (2025). Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia. International Journal of Neonatal Screening, 11(3), 61. https://doi.org/10.3390/ijns11030061

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