Question of the Week

Question :
Posted On : 22 Nov 2013
What is the normal levels of Arylsulfatase A_? At what levels can Metachromatic leukodystrophy be diagnosed definitively_?
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Expert Answer :
Normal Arylsulphatase A levels are more than or equal to 2.5 U per 10 raised to the power 10 cells. Values between 1.0 and 2.5 are suggestive of the presence of pseudodeficiency gene. Patients with these depressed levels may be phenotypically normal.
Values expected in MLD are less than or equal to 1.0 U per 10{10} cells. Activity between 1.0 U and 2.5 U is considered consistent with depressed but not absent arylsulfatase activity. Carriers or persons with a pseudogene may yield similar results but are unaffected with MLD.
Answer Discussion :
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