Format

Send to

Choose Destination
Gastroenterol Clin North Am. 2019 Jun;48(2):183-198. doi: 10.1016/j.gtc.2019.02.001. Epub 2019 Apr 1.

Inborn Errors of Metabolism and the Gastrointestinal Tract.

Author information

1
Admera Health, 126 Corporate Boulevard, South Plainfield, NJ 07080, USA. Electronic address: ruben.b.guerrero@admerahealth.com.
2
Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA.
3
Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA.

Abstract

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.

KEYWORDS:

Disorder; Error; Gastrointestinal; Hepatic; Inborn; Manifestations; Metabolism

PMID:
31046970
DOI:
10.1016/j.gtc.2019.02.001

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center