Abstract
Gastrointestinal manifestations of metabolic disorders may occur as part of a systemic disorder of intermediary metabolism in which other symptoms predominate or as the major or exclusive symptoms. Vomiting occurs frequently and is typical of the organic acidurias, the hyperammonemic syndromes, and fatty acid oxidation defects. Pain is not uncommon in metabolic disorders but this category is usually not considered until several episodes of abdominal pain have occurred without an obvious explanation. It is often intense and may lead to surgical exploration. In the porphyrias and familial fever syndromes, pain is a central clinical feature. Pancreatitis occurs with many organic acidurias, lipid and fatty acid disorders, and defects of oxidative phosphorylation. Diarrhea and failure to thrive, often together with malabsorption, are very common and can be due to disorders of digestive enzymes, especially disaccharidases, defects of carrier proteins, congenital disorders of glycosylation, and also mitochondrial dysfunction. Finally, ascites occurs in many lysosomal disorders.
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Kahler, S.G. (2017). Gastrointestinal and General Abdominal Symptoms. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_25
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DOI: https://doi.org/10.1007/978-3-662-49410-3_25
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