Article

Clinical and mutational spectrum of 4 Chinese families with glutaric aciduria type 1

2019-08-21

Abstract excerpt

<title>Abstract</title> <p>Background To investigate clinical presentation and molecular aspects of five patients suffered from glutaric aciduria type I (GA-I ), a rare neurometabolic disorder caused by glutaryl-CoA dehydrogenase deficiency due to GCDH gene mutations. Methods All five patients were diagnosed by elevated urinary glutaric acid and GCDH gene analysis. Low protein diet supplemented with special formu...

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Literature Corpus work: fc1f9aae-aee9-50e0-9dd9-173e31588997
DOI: 10.21203/rs.2.13326/v1

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