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Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I.

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.

SUBMITTER: McH J

PROVIDER: S-EPMC4633940 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature

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Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I.

Janssen McH M Kluijtmans Laj L Wortmann S B SB

BBA clinical 20140602

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 <i>GCDH</i> gene (c.1060A > G, c.1 ...[more]

PMID: 26674492

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