Arylsulfatase A, Fibroblasts
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Detection of metachromatic leukodystrophy
Arylsulfatase A is deficient in metachromatic leukodystrophy and multiple sulfatase deficiency.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not suitable for carrier status detection due to both analytical and unusual genetic variation. Individuals with pseudodeficiency of arylsulfatase A may have decreased enzyme activity and are not clinically affected with metachromatic leukodystrophy.
Arylsulfatase A is also deficient in individuals with multiple sulfatase deficiency.
This disorder is distinct from conditions caused by deficiencies of arylsulfatase B (Maroteaux-Lamy disease) and arylsulfatase C (steroid sulfatase deficiency).
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 =4.25 nmol/min/mg protein
Clinical References Provides recommendations for further in-depth reading of a clinical nature
1. Jaeken J, Gieselmann V, von Figura K: Metachromatic leukodystrophy. In Scriver's The Online Metabolic and Molecular Basis of Inherited Disease (OMMBID). Edited by D Valle, et al. McGraw-Hill Companies, Inc. Available from URL: http://www.ommbid.com/OMMBID/a/c.html/lysosomal_disorders/metachromatic_leukodystrophy/abstract
2. Fluharty AL: Arylsulfatase A Deficiency. In GeneReviews. Edited by RA Pagon, TD Bird, CR Dolan, et al: Seattle (WA): University of Washington, Seattle, 1993. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1130/
3. Mahmood A, Berry J, Wenger D, et al: Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol 2010;25(5):572-580