PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Two siblings showed increased galactose and galactose-related metabolites in neonatal screening. Diagnostic workup did not reveal abnormalities in any of the known disease-causing enzymes involved in galactose metabolism. Using whole-exome sequencing, we identified a homozygous missense variant in &...

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Bibliographic Details
Main Authors: Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Metabolites
Subjects:
PPA1
pyrophosphate
galactosemia
galactose
hyperbilirubinemia
inborn metabolic disorder
Online Access:https://www.mdpi.com/2218-1989/13/11/1141

Internet

https://www.mdpi.com/2218-1989/13/11/1141

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