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Journal of Inherited Metabolic Disease

Erschienen in:

01.07.2015 | SSIEM 2014

Ketogenic diets in patients with inherited metabolic disorders

verfasst von: S. Scholl-Bürgi, A. Höller, K. Pichler, M. Michel, E. Haberlandt, D. Karall

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 4/2015

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Abstract

Ketogenic diets (KDs) are diets that bring on a metabolic condition comparable to fasting, usually without catabolism. Since the mid-1990s such diets have been widely used in patients with seizures/epilepsies, mostly children. This review focuses on the use of KDs in patients with various inherited metabolic disorders (IMD). In glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDHc) deficiency, KDs are deemed the therapy of choice and directly target the underlying metabolic disorder. Moreover, in other IMD, mainly of intermediary metabolism such as glycogen storage diseases and disorders of mitochondrial energy supply, KDs may ameliorate clinical symptoms and laboratory parameters. KDs have also been used successfully to treat symptoms such as seizures/epilepsy in IMD, e.g. in urea cycle disorders and non-ketotic hyperglycinemia. As a note of caution, catabolism may cause the condition of patients with IMD to deteriorate and should thus be avoided during KDs. For this reason, careful monitoring (clinical, laboratory and apparatus-supported) is warranted. In some IMDs specific macronutrient supply is critical. Therefore, in cases of PDHc deficiency the carbohydrate intake tolerated without lactate increase and in urea cycle disorders the protein tolerance should be determined. Considering this, it is particularly important in patients with IMD that the use of KDs be individualized and well documented.

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Titel: Ketogenic diets in patients with inherited metabolic disorders
verfasst von: S. Scholl-Bürgi
A. Höller
K. Pichler
M. Michel
E. Haberlandt
D. Karall
Publikationsdatum: 01.07.2015
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 4/2015
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-015-9872-2

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