Description
Arylsulphatase A is an enzyme involved in the normal catabolism of cerebroside sulphatide. The arylsulphatase A gene, located on chromosome 22, has a few common mutations causing enzyme deficiency which result in juvenile and adult onset Metachromatic Leucodystrophy (MLD), a neurodegenerative lysosomal storage disease, in addition to psuedoarylsulphatase deficiency. MLD, in its severe form, presents in the first 2 years of life with spastic paraparesis and developmental delay whereas in the adult form it is associated with dementia and behavioural problems.
Indications
Useful in the diagnosis of MLD.
Sample Type, Quantity & Conditions
10 ml Heparin Blood Room Temperature
Special Precautions
Due to instability, draw sample as close to testing date as possible.
Normal Range
By Report
