Aryl Sulphatase A Metachromatic Leukodystrophy Test

Arylsulphatase-A Test Overview

The arylsulphatase-A test is a vital diagnostic tool used to measure the activity of the arylsulphatase-A enzyme in the body. This enzyme plays a crucial role in breaking down sulfatides, particularly cerebroside sulphate, into cerebroside and sulphate. The arylsulphatase-A test is primarily used to diagnose and monitor a genetic disorder called metachromatic leukodystrophy (MLD), which results from a deficiency of this enzyme.

The arylsulphatase-A test is essential for individuals presenting with symptoms suggestive of MLD, such as neurological deterioration, muscle weakness, and other systemic issues. It helps confirm the diagnosis and enables healthcare professionals to monitor the progress of the condition. Additionally, the arylsulphatase-A test may be used as part of a broader screening process to identify carriers of the disorder, although its reliability for this purpose is limited due to analytical variations and genetic variants.

This test looks for the presence of the Aryl Sulphatase A enzyme in the blood to identify Metachromatic Leukodystrophy (MLD), a rare hereditary condition. It is involved in the breaking down of sulphatides.