Zusammenfassung
Harnstoffzyklusstörungen gehören, wie die meisten Stoffwechselkrankheiten, mit einer Häufigkeit von weniger als 1:2000 Einwohner zu den seltenen Krankheiten („orphan diseases“). Oft besteht noch der Eindruck, diese seien nicht nur selten, sondern würden zudem lediglich Neugeborene betreffen und seien deshalb v. a. Domäne der Neonatologie. Diese Einschätzung ist nicht nur falsch, sondern auch gefährlich, denn sie verzögert die rechtzeitige Einleitung von erforderlichen diagnostischen und therapeutischen Maßnahmen. Aus diesem Grund widmet sich der vorliegende Beitrag exemplarisch den Varianten von Harnstoffzyklusstörungen, verweist aber auch darauf, dass die meisten Stoffwechselkrankheiten als ein Kontinuum von asymptomatischen biochemischen Phänotypen über milde Verlaufsformen bis zu den klassischen Präsentationen zu verstehen sind.
Abstract
Urea cycle disorders are like most metabolic diseases orphan diseases with a prevalence of less than 1 in 2,000 in the population. Often urea cycle disorders as well as metabolic diseases in general are neglected as they are regarded as rare and to mainly affect newborns. This assumption is incorrect and dangerous because it prolongs the time to implement appropriate diagnostic and therapeutic measures. To increase the awareness of the reader the present paper addresses variants of urea cycle disorders. This will serve as an example for metabolic diseases in general which can be regarded as a continuum from asymptomatic biochemical phenotypes through mild variants to severe classical forms.
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Häberle, J. Varianten von Harnstoffzyklusstörungen. Monatsschr Kinderheilkd 159, 834–841 (2011). https://doi.org/10.1007/s00112-011-2444-0
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DOI: https://doi.org/10.1007/s00112-011-2444-0
Schlüsselwörter
- Stoffwechselkrankheit
- Harnstoffzyklusstörung
- Hyperammonämie
- Seltene Krankheiten
- Unklare Bewusstseinsstörung