The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Abstract Background Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identification of GA1 patients is possible by newborn scree...

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Bibliographic Details
Main Authors: Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:JIMD Reports
Subjects:
glutaric acidemia
glutarylcarnitine
glutaryl‐CoA dehydrogenase
low excretor
newborn screening
Online Access:https://doi.org/10.1002/jmd2.12217

Internet

https://doi.org/10.1002/jmd2.12217

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