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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Bibliografske podrobnosti

Principais autores:	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:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2023-11-01
Serija:	Metabolites
Teme:	PPA1 pyrophosphate galactosemia galactose hyperbilirubinemia inborn metabolic disorder
Online dostop:	https://www.mdpi.com/2218-1989/13/11/1141
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