Pseudoarylsulfatase A deficiency
Overview
Deficiency of an enzyme called arylsulfatase A which produces no symptoms and is only discovered incidentally
Symptoms
Asymptomatic
Causes
It is caused by two mutations in the gene coding for arylsulfatase A (ASA). These mutations are actually a polymorphism of the gene. They are located in a glycosylation site and in a polyadenylation signal and are often associated. They are responsible for the decreased activity of arylsulfatase A when measured with artificial substrate. Their finding is fairly frequent (6-10% in Europe), but there are no associated clinical signs nor signs of accumulated sulfatides. However this polymorphism has often been found to be associated with heterozygosity for metachromatic leukodystrophy
Diagnosis
signs and symptoms of Pseudoarylsulfatase A deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Pseudoarylsulfatase A deficiency symptoms.