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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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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI AG 2023-11-01
Reeks:Metabolites
Onderwerpen:
PPA1
pyrophosphate
galactosemia
galactose
hyperbilirubinemia
inborn metabolic disorder
Online toegang:https://www.mdpi.com/2218-1989/13/11/1141
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