Aryl sulfatase A deficiency in psychiatric and neurologic patients

Abstract

Two hundred ninety‐five psychiatric and neurologic patients were randomly screened for aryl sulfatase A (ASA) activity in lymphocyte extracts. Two of these patients showed very low ASA activity, in the range of metachromatic leukodys‐trophy (MLD)‐affected patients. The residual activity in these low ASA patients showed normal enzyme behavior with regard to ASA kinetic features and the ability to catabolize ¹⁴C labeled sulfatide by intact fibroblasts Taking into account that approximately 3% of the general population are homozygous for the pseudo‐aryl sulfatase A gene and are clinically unaffected, the data obtained here indicate that the patients studied in this work, as well as most psychiatric patients reported in the literature with low ASA activity, represent the normal ASA polymorphism. Thus, the very low ASA activity patients are in fact homozygous for the pseudo‐deficient allele, which does not result in clinical abnormalities. The clinical symptoms in these psychiatric patients and probably other “variant” MLD patients are therefore not related to low ASA activity.