Infants with biliary atresia exhibit an altered amino acid profile in their newborn screening.

ABSTRACT:

Introduction

Biliary atresia (BA) is a rare progressive neonatal cholangiopathy with unknown pathophysiology and time of onset. Newborn Screening (NBS) in Germany is routinely performed in the first days of life to identify rare congenital diseases utilizing dried blood spot (DBS) card analyses. Infants with biliary atresia (BA) are known to have altered amino acid profiles (AAP) at the time point of diagnosis, but it is unclear whether these alterations are present at the time point of NBS.

Objectives

We aimed to analyze amino acid profiles in NBS-DBS of infants with Biliary Atresia.

Methods

Original NBS-DBS cards of 41 infants who were later on diagnosed with BA were retrospectively obtained. NBS-DBS cards from healthy newborns (n = 40) served as controls. In some B

SUBMITTER: Uecker M 

PROVIDER: S-EPMC11455667 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature