Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM)

Reviews in Endocrine & Metabolic Disorders
Andre Mattman, Murray Potter

Abstract

Endocrinologists may encounter abnormal results in routine laboratory tests while caring for patients with inborn errors of metabolism. This article provides a framework for understanding these abnormalities as: a) part of the pathophysiology of the exceptional disease, b) exceptional laboratory errors related to the exceptional disease, or c) routine laboratory errors to which any patient sample is susceptible.

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