Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms

Mol Genet Metab. 2023 Mar;138(3):107528. doi: 10.1016/j.ymgme.2023.107528. Epub 2023 Feb 1.

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.

Keywords: Esophagus; Intestinal problems; Pancreas; Stomach; Vomiting.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Intramural

MeSH terms

  • Gastrointestinal Diseases* / diagnosis
  • Gastrointestinal Diseases* / genetics
  • Humans
  • Metabolic Diseases* / genetics