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

• Main Authors: Johannes Spenger (Author), Esther M. Maier (Author), Katharina Wechselberger (Author), Florian Bauder (Author), Melanie Kocher (Author), Wolfgang Sperl (Author), Martin Preisel (Author), Katharina A. Schiergens (Author), Vassiliki Konstantopoulou (Author), Wulf Röschinger (Author), Johannes Häberle (Author), Thomas Schmitt-Mechelke (Author), Saskia B. Wortmann (Author), Ralph Fingerhut (Author)
• Format: Book
• Published: MDPI AG, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 gl...