Angeborene Störungen des Karnitinzyklus und der Fettsäuren-β-Oxidation

Jörn Oliver Sass; Ulrike Veronika Demetz; Daniela Skladal; Barbara Plecko

doi:10.1055/s-0037-1617821

Kinder- und Jugendmedizin, Table of Contents

Kinder- und Jugendmedizin 2004; 04(03): 107-112
DOI: 10.1055/s-0037-1617821

Stoffwechsel

Schattauer GmbH

Angeborene Störungen des Karnitinzyklus und der Fettsäuren-β-Oxidation

Inborn errors of carnitine cycle and fatty acid β-oxidation

Jörn Oliver Sass

¹Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg (Geschäftsführender Direktor: Prof. Dr. med. M. Brandis)

,

Ulrike Veronika Demetz

²Dr. von Haunersches Kinderspital der LMU München (Direktor: Prof. Dr. med. D. Reinhard)

,

Daniela Skladal

³Universitätsklinik für Kinder- und Jugendheilkunde Innsbruck, Österreich (Vorstand: Prof. Dr. med. Lothar Bernd Zimmerhackl)

,

Barbara Plecko

⁴Universitätsklinik für Kinder- und Jugendheilkunde Graz, Österreich (Vorstand: Prof. Dr. Wilhelm Müller)

› Author Affiliations

Abstract

Zusammenfassung

Eine intakte Fettsäuren-β-Oxidation ist essenziell für die Deckung des Energiebedarfs nach weitgehender Erschöpfung der Kohlenhydratdepots. Können Fettsäuren aufgrund eines genetischen Defektes nicht adäquat abgebaut werden, kann es in katabolen Stoffwechsellagen zur metabolischen Entgleisung kommen, wobei meist metabolische Azidose und hypoketotische Hypoglykämie Leitsymptome darstellen. Abhängig vom Enzymdefekt sind Leber, Herz und Skelettmuskulatur in unterschiedlichem Ausmaß betroffen. Viele Patienten versterben in der Phase der Erstmanifestation. Eine frühe Diagnosestellung mittels Bestimmung der Azylkarnitine im Blut und der Organischen Säuren im Harn sowie gezielte Therapiemaßnahmen haben die Prognose dieser Patienten in den letzten Jahren wesentlich verbessert. Da Erstmanifestationen von Defekten des Karnitinzyklus und der Fettsäuren-β-Oxidation auch später im Leben möglich sind, sollten diese Krankheiten auch jenseits der Säuglingsperiode in die Differenzialdiagnose einbezogen werden.

Summary

Intact fatty acid β-oxidation is essential for covering energy needs after carbohydrate reservoirs are exhausted in catabolic situations. If fatty acid degradation is impaired due to an inherited defect, catabolism can result in metabolic crises, which are often characterized by metabolic acidosis and hypoketotic hypoglycemia. Depending on the underlying enzyme deficiency liver, heart and skeletal muscles are affected to a different extent. Many patients die during their first metabolic crisis. Early diagnosis by assessment of blood acylcarnitines and urinary organic acids and improved therapeutic means have greatly improved the prognosis of these patients in recent years. Since inborn errors in carnitine cycle and fatty acid β-oxidation can also present later in life, those disorders should also be considered as differential diagnoses beyond infancy.

Schlüsselwörter

Organazidurie - Hypoglykämie - Reye-artiges Syndrom - Kardiomyopathie - Hepatopathie - Rhabdomyolyse

Keywords

Organic aciduria - hypoglycemia - Reye-like syndrome - cardiomyopathy - hepatopathy - rhabdomyolysis

Full Text

References

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