title: 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 theGCDHgene (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.
authors.affiliation: Departments of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.|Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: McH
authors.initials: M
authors.lastname: Janssen
authors.affiliation: Laboratory of Genetic Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Laj
authors.initials: L
authors.lastname: Kluijtmans
authors.affiliation: Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: S B
authors.initials: SB
authors.lastname: Wortmann
keywords: Carnitine deficiency; Glutaric acid; Glutaric aciduria; New born screening