Screening for disorders with increased excretion of fructose, glucose, galactose, disaccharides, oligosaccharides, and succinylpurines
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Screening for disorders with increased excretion of fructose, glucose, galactose, disaccharides, oligosaccharides, and succinylpurines. If qualitative result is suggestive of an elevation of galactose or glucose, quantitative testing will be performed at an additional charge.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Saccharides (also called carbohydrates) are a group of mono-, di-, and oligosaccharides of endogenous and exogenous sources. Their presence frequently reflects dietary onsumption, but can indicate specific pathology if either a particular saccharide or a particular excretory pattern is present. Most saccharides (except glucose) have low renal thresholds and are readily excreted in the urine.
The presence of saccharides in urine is seen in some inborn errors of metabolism. Urine tests for reducing substances (eg, copper reduction test) are often used to screen for those disorders. However, in addition to sugars, a number of other substances present in biological fluids (eg, salicylates, uric acid, hippuric acid, ascorbic acid) have reducing properties. Conversely, some saccharides such as sucrose and trehalose do not have reducing properties. Other saccharides present at low concentrations may not be identified by reducing tests. Substances in urine may inhibit glucose oxidase-based tests and also, other saccharides of diagnostic importance may be present along with glucose in urine. Chromatography of urinary saccharides is, therefore, required in many instances to identify the particular species of saccharide present. Any specimen tested for urinary carbohydrates is concurrently tested for the presence of succinyl nucleosides to screen for inborn errors of purine synthesis.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
If positive, carbohydrate is identified.
The saccharide(s) present is named, identification of the probable source, and an interpretive comment is provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
A number of compounds (identifiable by the technique used) interfere with the assay and microbial contamination can lead to uninterpretable patterns of urinary saccharides. Retesting will be recommended in these cases.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Steinmann B, Gitzelmann R, Van den Berghe, G: Disorders of fructose metabolism. In The Metabolic and Molecular Basis of Inherited Disease. Vol. 3. Eighth edition. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill Book Company, 2001, pp 3635-3656
2. Race V, Marie S, Vincent M, et al: Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum Mol Genet 2000 Sep 1;9(14):2159-2165