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- W1982920980 abstract "We report three adult sibs (one female, two males) with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydroxyglutaric aciduria. The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase activity in lymphocytes and two pathogenic heterozygous mutations in the GCDH gene (c.1060A > G, c.1154C > T). These results reinforce the notion that abnormal metabolite levels in newborns may lead to the diagnosis of adult metabolic disease in the mother and potentially other family members." @default.
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- W1982920980 date "2014-06-01" @default.
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- W1982920980 title "Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I" @default.
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- W1982920980 doi "https://doi.org/10.1016/j.bbacli.2014.05.003" @default.
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