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Kinder- und Jugendmedizin 2006; 6(04): 225-232
DOI: 10.1055/s-0037-1617909
Stoffwechsel
Schattauer GmbH

Differenzialdiagnose der Hyperphenylalaninämien

Screening auf angeborene StoffwechselkrankheitenDiagnosis of hyperphenylalaninemiasscreening for inborn errors of metabolism
Nenad Blau
1   Abteilung für Klinische Chemie und Biochemie, Universitäts-Kinderklinik Zürich (Klinikleitung: Prof. Dr. med. Felix H. Sennhauser)
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Further Information

Publication History

Eingegangen: 18 April 2006

angenommen: 26 April 2006

Publication Date:
11 January 2018 (online)

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Zusammenfassung

Die Hyperphenylalaninämien sind eine sehr heterogene Gruppe der angeborenen Stoffwechselkrankheiten, die durch eine relativ einfache Labordiagnostik mit Sicherheit diagnostiziert werden können. Dabei unterscheidet man zwischen verschiedenen Formen der Phenylketonurie (mild bis klassisch) und dem Tetrahydrobiopterin (BH4)-Mangel. Eine Frühdiagnose ist Voraussetzung für eine rasche und effiziente Behandlung, um mögliche irreversible Hirnschädigungen eines Neugeborenen zu verhindern. Eine neue Gruppe der PKU-Patienten (BH4-sensitive PKU) konnte durch einen Belastungstest mit BH4 diagnostiziert werden und diese Patienten könnten von der medikamentösen Behandlung mit BH4 profitieren.

Summary

Hyperphenylalaninemias are a heterogeneous group of inherited metabolic disorders that can be diagnosed through a sequence of relative simple laboratory tests. Two groups of patients can be detected; those with phenylketonuria (mild to classic phenotype) and those with tetrahydrobiopterin (BH4) deficiency. An early diagnosis and immediate treatment are essential for the favourable outcome. A new group of PKU patients (BH4-responsive PKU) has been recently diagnosed by the BH4 loading test. These patients may potentially benefit from the pharmacological therapy with BH4.

Schlüsselwörter

Phenylketonurie - PKU - Tetrahydrobiopterin - Neugeborenen-Screening

Keywords

Phenylketonuria - PKU - tetrahydrobiopterin - newborn screening
 

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