Set of Simple Side-room Urine Tests for Detection of Inborn Errors of Metabolism

Abstract

This article describes a group of simple - inexpensive tests which can be used to detect the presence of a group of metabolic diseases. The tests can be performed in any hospital side-room, clinic, or surgery with little or no previous experience. Currently, methods for detecting these diseases are not easily available, and therefore, though each disease is rare, collectively they cause an unknown amount of morbidity and mortality. The use of these tests combined with judicious clinical selection of high-risk patients can provide conclusive proof of the existence of several diseases and can act as a screening method to select patients who merit more precise biochemical investigation in many other instances. Ideally, such tests should be used as part of the routine management of all healthy infants. © 1968, British Medical Journal Publishing Group. All rights reserved.