Inborn Errors of Metabolism and the Gastrointestinal Tract
| Autor: | Karen M. Kloke, Ruben Bonilla Guerrero, Denise Salazar |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Gastrointestinal tract Pediatrics medicine.medical_specialty business.industry Gastrointestinal Diseases Vomiting Gastroenterology Abdominal Pain Gastrointestinal Tract 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Pancreatitis Porphyria Acute Intermittent medicine Fabry Disease Humans 030211 gastroenterology & hepatology Differential diagnosis business Liver Failure Metabolic Networks and Pathways Metabolism Inborn Errors |
| Zdroj: | Gastroenterology clinics of North America. 48(2) |
| ISSN: | 1558-1942 |
| Popis: | Inborn errors of metabolism (IEMs) are usually recognized by characteristic neurologic and metabolic manifestations and sometimes by dysmorphism. However, IEMs can present with a wide variety of gastrointestinal manifestations, whether as the primary or a minor clinical symptom. Regardless, gastrointestinal and hepatic manifestations of IEMs are important clinical features that can help identify an underlying defect; these disorders should be taken into consideration as part of a patient's clinical assessment. It is prudent to include metabolic disorders in the differential diagnosis because in some cases, gastrointestinal symptoms may be the only presenting feature in a patient with an underlying IEM. |
| Databáze: | OpenAIRE |
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