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• W2182112122 abstract "Glutaric aciduria type I (GA-I) is a rare autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH), leading to an abnormal metabolism of lysine, hydroxylysine and tryptophan. It results in accumulations of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Clinical features include the sudden onset of encephalopathy, hypotonia and macrocephaly usually before age 18months. Here we report five cases of GA-I confirmed with mutation analysis. GCDH gene mutations were identified in all five probands with GA-I. Three of them had compound heterozygous mutations and two had homozygous mutations. Mutations of two alleles (c.334G>T and IVS11-11A>G) were novel and both of them were confirmed to be splice site mutations by reverse transcription PCR." @default.
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• W2182112122 date "2016-01-01" @default.
• W2182112122 modified "2023-10-12" @default.
• W2182112122 title "Clinical and molecular investigation in Chinese patients with glutaric aciduria type I" @default.
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• W2182112122 doi "https://doi.org/10.1016/j.cca.2015.12.003" @default.
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