Method for detecting a predisposition to susceptibility to toxic effects of drugs and poisons

摘要

The present invention relates to methods for diagnosis of susceptibility to neurotoxicity or the pathological effects of neurotoxicity based on detection of a genetic marker in an individual. The present invention is directed generally to methods and associated compositions and kits for detecting the presence of arylsulfatase A (ASA) pseudodeficiency (PD) mutations in humans. Detection of these mutations has been surprisingly found to be a strong indicator for susceptibility to neurotoxicity and/or susceptibility to toxicant's pathological effects, as well as an important marker in evaluating the likelihood of metachromatic leukodystrophy (MLD).