الوصف
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.
دواعي الإستعمال
Useful in the diagnosis of MLD.
نوع العينة والكمية والشروط
10 ml Heparin Blood Room Temperature
إحتياطات خاصة
Due to instability, draw sample as close to testing date as possible.
المعدل الطبيعي
By Report
