Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Diagnosis of mucopolysaccharidosis I (MPS I), Hurler syndrome (MPS IH), Scheie syndrome (MPS IS), and Hurler-Scheie syndrome (MPS IH/S)
Mucopolysaccharidosis I is characterized by very low or absent activity of alpha-L-iduronidase; differentiation between Hurler syndrome (MPS IH), Scheie syndrome (MPS IS), and Hurler-Scheie syndrome (MPS IH/S) is based on clinical findings.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test cannot reliably determine carrier status for mucopolysaccharidosis I (MPS I).
The presence of a pseudodeficiency allele may cause reduced activity of alpha-L-iduronidase with the use of artificial substrate, which is used in this assay. This can result in values below the normal reference range, but will typically be greater than levels found in patients with MPS I.
Interfering factors include lack of viable cells, bacterial contamination, failure to transport tissue in an appropriate media, excessive transport time, and exposure of the specimen to temperature extremes (freezing or >30 degrees C).
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.
> or =0.87 nmol/min/mg protein
Clinical References Provides recommendations for further in-depth reading of a clinical nature
1. Martins AM, Dualibi AP, Norato D, et al: Guidelines for the management of mucopolysaccharidosis type I. J Pediatr 2009 Oct:155(4 Suppl):S32-S46
2. Neufeld EF, Muenzer J: The mucopolysaccharidoses. In The Metabolic and Molecular Basis of Inherited Disease. Vol 3. Eighth edition. Edited by CR Scriver, AL Beaudet, WS Sly, et al. New York, McGraw-Hill Book Company, 2001, pp 3427-3435