A METHOD FOR RAPID DETECTION OF ARYLSULFATASE A PSEUDODEFICIENCY MUTATIONS

Pseudodeficiency of arylsulfatase A is a complicating factor in the de termination of metachromatic leukodystrophy risk and carrier status. A method using polymerase chain reaction and restriction enzyme digesti on to detect the presence of both the mutations that contribute to ary lsulfatase A pseudodeficiency is described using DNA from blood or buc cal cells. Application of this technique should facilitate determinati on of metachromatic leukodystrophy status and counseling in families w here the pseudodeficiency allele is present.