Klin Padiatr 2010; 222(1): 35-37
DOI: 10.1055/s-0029-1239525
Case Report

© Georg Thieme Verlag KG Stuttgart · New York

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

Das Einhalten klinscher Richtlinien verbessert die Prognose bei Glutarazidurie Typ 1I. Höliner1 , B. Simma1 , A. Reiter1 , J. O. Sass2 , J. Zschocke3 , M. Huemer4
  • 1Department of Pediatrics, University Teaching Hospital, Landeskrankenhaus Feldkirch, Austria
  • 2Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Germany
  • 3Institute of Human Genetics, Heidelberg University, Germany
  • 4Department of Pediatrics, Landeskrankenhaus Bregenz, Austria
Further Information

Publication History

Publication Date:
18 January 2010 (online)

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 early commencement and strict adherence to treatment improves clinical outcome even in patients with complete absence of enzyme activity.

Zusammenfassung

Wir berichten über einen 4,5-jährigen Patienten mit Glutarazidurie Typ I (GA-I), einer autosomal-rezessiv vererbten Störung des Lysin-, Hydroxylysin- und Tryptophanstoffwechsels. Der Enzymassay in kultivierten Hautfibroblasten zeigte keine Aktivität der Glutaryl-CoA-Dehydrogenase (GCDH) bei Homozygotie für eine bisher nicht beschriebene Mutation. Wir behandelten den Patienten nach den derzeitigen Richtlinien für GA-I. Unter dieser Therapie entwickelte sich das Kind normal ohne metabolische Krisen. Dieser Bericht zeigt, dass bei konsequentem Einhalten der Therapie von Geburt an die Prognose auch bei Kindern mit einem völligen Fehlen der Enzymaktivität positiv beeinflusst werden kann.

References

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Correspondence

Dr. Martina Huemer

Department of Pediatrics Landeskrankenhaus

Bregenz

Austria

Phone: +43/5574/401/1500

Fax: +43/5574/401/1500

Email: martina.huemer@lkhb.at