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Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I
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-hydr...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633940/ https://www.ncbi.nlm.nih.gov/pubmed/26674492 http://dx.doi.org/10.1016/j.bbacli.2014.05.003 |
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author | Janssen, MCH Kluijtmans, LAJ Wortmann, SB |
author_facet | Janssen, MCH Kluijtmans, LAJ Wortmann, SB |
author_sort | Janssen, MCH |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4633940 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-46339402015-12-15 Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I Janssen, MCH Kluijtmans, LAJ Wortmann, SB BBA Clin Regular Article 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. Elsevier 2014-06-02 /pmc/articles/PMC4633940/ /pubmed/26674492 http://dx.doi.org/10.1016/j.bbacli.2014.05.003 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/). |
spellingShingle | Regular Article Janssen, MCH Kluijtmans, LAJ Wortmann, SB Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I |
title | Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I |
title_full | Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I |
title_fullStr | Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I |
title_full_unstemmed | Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I |
title_short | Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I |
title_sort | screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type i |
topic | Regular Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633940/ https://www.ncbi.nlm.nih.gov/pubmed/26674492 http://dx.doi.org/10.1016/j.bbacli.2014.05.003 |
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