CareLit Fachartikel

Compliance to Clinical Guidelines Determines Outcome in Glutaric Aciduria Type I in the Era of Newborn Screening

I. Höliner, B. Simma, A. Reiter, J. O. Sass, J. Zschocke, M. Huemer · Klinische Pädiatrie · 2010 · Heft 01 · S. 35-37

Dokument
1046316
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Jahr
2010
Publikation
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Klinische Pädiatrie
Autor:innen
I. Höliner, B. Simma, A. Reiter, J. O. Sass, J. Zschocke, M. Huemer
Ausgabe
Heft 01 / 2010
Jahrgang 222
Seiten
35-37
Erschienen: 2010-01-01 00:00:00
ISSN
0300-8630
DOI
10.1055/s-0029-1239525

Zusammenfassung

Abstract We report on a 4.5-year-old patient diagnosed with Glutaric aciduria type I (GAI), an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism. Enzymatic assay in cultivated skin fibroblasts revealed complete absence of glutaryl-CoA dehydrogenase activity. All 11 Exons of the GCDH-Gen were sequenced and homozygosity for a yet undescribed mutation was identified. The patient was treated following the recently published guidelines for GA-I. Following this treatment regimen, the child developed normally without any manifest clinical crises. Our patient provides evidence that earl…

Schlagworte

glutaric aciduria type I newborn screening macrocephaly glutaryl-CoA-dehydrogenase gene Glutarazidurie Typ I Neugeborenenscreening Makrozephalie Glutaryl-CoA-Dehydrogenase-Gen Klinische Pädiatrie