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

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.

Figure 1.

Occurrence (%) of symptoms associated with disorders presenting with GI symptoms in 6 categories of IMDs. The percentages for GI symptoms were calculated using as the denominator the total number of IMDs in each category presenting with any GI phenotype. Heat scale ranges from red (0%) for diseases with no particular symptoms reported to violet (100%) for diseases with particular symptoms occurring with high frequency within the disorders group. For definition of 6 categories of disorders affecting the GI tract, see Supplemental Table S2. For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.