Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms
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Updated: Aug 10, 2025

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport
Published on: November 27, 2016
Denise Salazar1, Karen M Kloke2, Rubén Bonilla Guerrero3
1Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, United States of America.
Abstract:
Inherited metabolic disorders presenting with gastrointestinal (GI) symptoms are characterized by the dysfunction of the esophagus, stomach, small and large intestines, and pancreas. We have summarized associations of signs and symptoms in 339 inherited metabolic diseases presenting with GI symptoms. Feeding difficulties represent the most common abnormality reported for IMDs with GI involvement (37%) followed by intestinal problems (30%), vomiting (22%), stomach and pancreas involvement (8% each), and esophagus involvement (4%). This represents the eleventh of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
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