Metachromatic Leukodystrophy: Arylsulfatase A Enzyme Activity, Leukocytes

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Condition Description

Metachromatic Leukodystrophy (MLD) is a disease that affects the breakdown of glycolipid- cerebroside sulfates present in myelin. There are multiple forms of MLD defined by the age of onset, including late infantile (most common), juvenile and adult. As with all the leukodystrophies, the symptoms can vary widely, although in all cases there is a progressive loss of physical and intellectual function over a relatively extended period of time. In general, the earlier the onset, the more rapid the progression of the disease. Symptoms include optic atrophy, gallbladder dysfunction, cholecystitis, urinary incontinence, hypotonia, seizures, behavioral disturbances and mental deterioration.

For further information about lysosomal storage diseases, please call the Emory Lysosomal Storage Disease Center at (404) 778-8565 or (800) 200-1524. For general questions, call the Emory Genetics Laboratory at (404) 778-8500.

Indications

This test is indicated for children or adults with symptoms of metachromatic leukodystrophy (arylsulfatase A).

Methodology

Enzymatic reaction detected by Spectrophotometric assay. Arylsulfatase A activity is evaluated to confirm diagnosis of MLD.

Specimen Requirements

Type: Whole Blood

Specimen Requirements:

In sodium heparin (green top) tube: 3-5 ml

Specimen Collection and Shipping: Ship sample at room temperature for receipt at EGL within 24 hours of collection. Do not refrigerate or freeze.

Lysosomal Enzyme Screening Panel (LS)

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