Metachromatic Leukodystrophy: Arylsulfatase A Enzyme Analysis

This biochemical test is a quantitative measurement of arylsulfatase A enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Metachromatic Leukodystrophy. Demonstration of deficient arylsulfatase A enzyme activity is considered the gold standard to confirm a diagnosis of Metachromatic Leukodystrophy.

Turnaround Time

2 weeks

CPT Code(s)

82657

Cost

$200

Enzymes

• Metachromatic Leukodystrophy

Metachromatic leukodystrophy is an autosomal recessive condition caused by a deficiency of arylsulfatase A, an enzyme crucial to the breakdown of sulfatides in the body. The accumulation of sulfatides causes demyelination of nerves. Progressive signs of leukodystrophy include a decline in intellectual abilities and motor skills to the extent that affected individuals lose the ability to walk, speak, see, and hear. This condition can present as late-infantile, juvenile or adult forms, and it is more common in people of Israeli or Navajo descent.

Patients with a suspected diagnosis of metachromatic leukodystrophy based on clinical symptoms and MRI findings.

4-methylumbelliferyl substrate

• Metachromatic Leukodystrophy: ARSA Sequencing
• Lysosomal Storage Disease Enzyme Panel
• Lysosomal Storage Disease NGS Panel

Enzyme activity can be measured in leukocytes or cultured fibroblasts. For leukocytes, please send 5-7 ml of whole blood in a green top (sodium heparin) tube.

Whole blood samples for enzyme testing should be shipped at ambient temperature and must arrive at the laboratory the next day.