Abstract
Arylsulfatase A (ARSA) is a lysosomal enzyme that plays an important role in catalysis of degradation of cerebrosidesulphate. The deficiency of this lysosomal enzyme causes an autosomal recessive disorder, called metachromatic leucodystrophy. However, a low ARSA activity can be observed in clinically healthy people, called ARSA pseudodeficiency. In our study we investigated the possible linkage between ARSA activity and sulfatide deficiency causing characteristic aspects of degenerative diseases, such as end stage kidney disease, type 2 Diabetes mellitus, Parkinson syndrome, prostate cancer and HIV (Human Immunodeficiency Virus) infection. We used a spectrophotometric method to determine the activity of ARSA. This method of enzyme dosage is based on a 4 hour long hydrolysis of the ARSA enzyme on 4-nitrocatechol sulfate (p-NCS) substrate. The unit of this measurement is nmol/ml/4h. Our findings show significant values in type 2 diabetes, Parkinson syndrome and chronic kidney disease. The importance of sulfatide in these diseases is well-known, thus presumably the variation of the ARSA’s activity might play an important role in the pathophysiology of these diseases, involving a vicious cycle between sulfatide degradation andthese diseases.
Pseudoarylsulfatase-A Deficiency in the Neurologically Impaired Patient
