Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy
For many inborn metabolic diseases, a lifelong diet is a crucial part of the therapy since pharmacological therapy is available for only a few conditions and patients. The implementation of a low natural protein diet with a reduced intake of natural protein and the complementary use of synthetic amino acid mixtures is described using the examples of phenylketonuria and urea cycle disorders focusing on children and adolescents. For phenylketonuria, the amino acid supplement is free of phenylalanine whereas for urea cycle disorders, it exclusively consists of essential amino acids. The dietary treatment aims to maintain metabolic stability and to prevent accumulation of toxic metabolites. At the same time, the nutritional requirements to ensure growth and development must be met. Therefore, patients need to follow strict rules regarding the choice of food products. This restrictive therapy interferes with the desire for autonomy and the joy of eating and often results in a reduced quality of life.Following the diet is crucial for a favorable outcome. To meet its requirements, patients and their families are provided with training. It is a great challenge not only to support the patients and their families in all practical aspects of dietary management, but also to motivate them to lifelong adherence in order to ensure the best possible outcome.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:63 |
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| Enthalten in: |
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz - 63(2020), 7 vom: 15. Juli, Seite 864-871 |
| Sprache: |
Deutsch |
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| Weiterer Titel: |
Ernährung bei angeborenen Stoffwechselerkrankungen – ein Spagat zwischen Genuss und Therapie |
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| Beteiligte Personen: |
Schiergens, Katharina A [VerfasserIn] |
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| Links: |
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| Themen: |
Adherence |
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| Anmerkungen: |
Date Completed 17.07.2020 Date Revised 17.07.2020 published: Print Citation Status MEDLINE |
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| doi: |
10.1007/s00103-020-03168-x |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
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| 245 | 1 | 0 | |a Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy |
| 246 | 3 | 3 | |a Ernährung bei angeborenen Stoffwechselerkrankungen – ein Spagat zwischen Genuss und Therapie |
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| 500 | |a Date Completed 17.07.2020 | ||
| 500 | |a Date Revised 17.07.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a For many inborn metabolic diseases, a lifelong diet is a crucial part of the therapy since pharmacological therapy is available for only a few conditions and patients. The implementation of a low natural protein diet with a reduced intake of natural protein and the complementary use of synthetic amino acid mixtures is described using the examples of phenylketonuria and urea cycle disorders focusing on children and adolescents. For phenylketonuria, the amino acid supplement is free of phenylalanine whereas for urea cycle disorders, it exclusively consists of essential amino acids. The dietary treatment aims to maintain metabolic stability and to prevent accumulation of toxic metabolites. At the same time, the nutritional requirements to ensure growth and development must be met. Therefore, patients need to follow strict rules regarding the choice of food products. This restrictive therapy interferes with the desire for autonomy and the joy of eating and often results in a reduced quality of life.Following the diet is crucial for a favorable outcome. To meet its requirements, patients and their families are provided with training. It is a great challenge not only to support the patients and their families in all practical aspects of dietary management, but also to motivate them to lifelong adherence in order to ensure the best possible outcome | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a Adherence | |
| 650 | 4 | |a Amino acid supplement | |
| 650 | 4 | |a Low natural protein diet | |
| 650 | 4 | |a Phenylketonuria | |
| 650 | 4 | |a Urea cycle disorders | |
| 700 | 1 | |a Weiß, Katharina J |e verfasserin |4 aut | |
| 700 | 1 | |a Dokoupil, Katharina |e verfasserin |4 aut | |
| 700 | 1 | |a Fleissner, Sandra |e verfasserin |4 aut | |
| 700 | 1 | |a Maier, Esther M |e verfasserin |4 aut | |
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