CareLit · DOI-Nachweis · Klinische Pädiatrie
Compliance to Clinical Guidelines Determines Outcome in Glutaric Aciduria Type I in the Era of Newborn Screening
DOI 10.1055/s-0029-1239525
Bibliografische Angaben
Nachweis in CareLit
Autor:innenI. Höliner, B. Simma, A. Reiter, J. O. Sass, J. Zschocke, M. Huemer
ZeitschriftKlinische Pädiatrie
Ausgabe01/2010
Jahrgang / SeitenJg. 222 · S. 35-37
Kernaussage aus der Literatur
Abstract-Vorschau
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 tr…
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Zitierempfehlung
I. Höliner, B. Simma, A. Reiter, J. O. Sass, J. Zschocke, M. Huemer (2010) Compliance to Clinical Guidelines Determines Outcome in Glutaric Aciduria Type I in the Era of Newborn Screening. Klinische Pädiatrie, 222 (01), 35-37. https://doi.org/10.1055/s-0029-1239525
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