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Screening for disorders with increased excretion of fructose, glucose, galactose, disaccharides, oligosaccharides, and succinylpurines
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.
Testing begins with CHOU / Carbohydrate, Urine. If qualitative results are normal, or abnormal but not indicative of galactose or glucose, testing is complete.
If qualitative results indicate the presence of galactose, GALU / Galactose, Quantitative, Urine will be performed at an additional charge.
If qualitative results indicate the presence of glucose, RGLUR / Glucose, Random, Urine will be performed at an additional charge.
Saccharides (also called carbohydrates) are a group of mono-, di-, and oligosaccharides of endogenous and exogenous sources. Their presence frequently reflects dietary consumption, 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.
If positive, carbohydrate is identified.
The saccharide(s) present is named, identification of the probable source, and an interpretive comment is provided.
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.
1. Steinmann B, Gitzelmann R, Van den Berghe G: Disorders of fructose metabolism. OMMBID. OMMBID.Accessed 10 Nov 2015. Available from URL: http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62671933
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