Infants with biliary atresia exhibit an altered amino acid profile in their newborn screening
Our data demonstrate that BA patients exhibit an altered AAP within 72 h after birth, long before the infants become symptomatic. This supports the theory of a prenatal onset of the disease and, thus, the possibility of developing a sensitive and specific NBS. Methionine might be particularly relevant due to its involvement in glutathione metabolism. Further investigation of AAP in BA may help in understanding the underlying pathophysiology.
Authors
- Christian Klemann (ORCID: https://orcid.org/0000-0002-5639-8690)
- Marie Uecker
- Cornelia Prehn (ORCID: https://orcid.org/0000-0002-1274-4715)
- Claus Petersen (ORCID: https://orcid.org/0000-0002-1789-7163)
- Nils Janzen (ORCID: https://orcid.org/0000-0002-2313-3311)
- Gertrud Vieten (ORCID: https://orcid.org/0000-0001-9341-4664)
- Jerzy Adamski (ORCID: https://orcid.org/0000-0001-9259-0199)
- Omid Madadi‐Sanjani (ORCID: https://orcid.org/0000-0002-7239-8973)
- Joachim F. Kuebler
Institutions
- University of Ljubljana (SI)
- Universität Hamburg (DE)
- National University of Singapore (SG)
- Helmholtz Zentrum München (DE)
- Medizinische Hochschule Hannover (DE)
- Kinderkrankenhaus auf der Bult (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- University Hospital Leipzig (DE)
- Klinikum Bremen-Mitte (DE)
Publication Details
- Journal
- Metabolomics
- Published
- 2024-10-05
- DOI
- https://doi.org/10.1007/s11306-024-02175-2
- Citations
- 2
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.15
Funders
- Helmholtz Zentrum München