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Glutaric aciduria type 1 diagnosis was made based on the presence of C5DC in the blood and the C5DC/capryloylcarnitine (C8) ratio detected by MS/MS. In addition, urine GA levels detected by GC–MS as previously reported (E et al., 2017), together with the clinical features and conventional laboratory tests were used for diagnostic purposes. 88 patients’ diagnoses were confirmed by GCDH gene analysis. Patients diagnosed from the NBS program could be asymptomatic.
Copyright and License information: ©2021 E, Liang, Zhang, Qiu, Ye, Xu, Gong, Gu and Han.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
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