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Glutaric Acidemia type 1 with Atypical Acylcarnitine Profile During Newborn Screening

2021-05-05

Abstract excerpt

<title>Abstract</title> <p><bold><italic>Background and aims</italic></bold> Glutaric acidemia type 1 (GA1) is a treatable disorder of cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (<italic>GCDH</italic>)<italic> </italic>gene. There is scarcity of reports of GA1 diagnoses following newborn screening (NBS) in the Chinese population. We assessed the acylcarnitine profiles and ge...

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Literature Corpus work
23702671-76d8-55eb-89f8-0f2634183a1a
DOI
10.21203/rs.3.rs-474079/v1
Open publication

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