Inborn Errors of Metabolism and the Gastrointestinal Tract.

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.

authors

Guerrero RB,Kloke KM,Salazar D

doi

10.1016/j.gtc.2019.02.001

subject

Has Abstract

pub_date

2019-06-01 00:00:00

pages

183-198

issue

2

eissn

0889-8553

issn

1558-1942

pii

S0889-8553(19)30002-0

journal_volume

48

pub_type

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