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. © 2014.
Janssen, M. C. H., Kluijtmans, L., & Wortmann, S. B. (2014). Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I. BBA Clinical, 1, 30–32. https://doi.org/10.1016/j.bbacli.2014.05.003