Clinical Nutrition in Gastrointestinal Disease

Alan Buchman, MD, MSPH

Chapter 24: Inborn Errors Of Metabolism For The Gastroenterologist (continued)

Charles P. Venditti, MD, PhD; Gerard T. Berry, MD

Inborn errors of metabolism, especially those that feature perturbations of small molecules, may be difficult to diagnose. In some instances, the presenting symptom complex may not be classical. Specialized metabolic laboratory studies are also usually more likely to be informative in the face of intercurrent illness or acute decompensation. This is the case with fatty acid oxidation defects and organic acidemias. Such situations can be life-threatening for the patient, and attempts to obtain diagnostic metabolic studies can be difficult under emergency circumstances. The co-occurrence of…