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Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the <i>GCDH</i> gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is based on elevated levels of glutarylcarnit...

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Uloženo v:
Hlavní autoři: Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2021-06-01
Edice:International Journal of Neonatal Screening
Témata:
glutaric aciduria type 1
newborn screening
glutaryl-carnitine
glutaric acid
3-hydroxyglutaric acid
<i>GCDH</i> gene
On-line přístup:https://www.mdpi.com/2409-515X/7/2/32
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