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Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

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ARSAW<br />

8779<br />

studies, such as molecular genetic testing of ARSA, urinary excretion of sulfatides (CTSA/81979<br />

Ceramide Trihexoside/Sulfatide Accumulation in Urine Sediment, Urine) and/or histological analysis for<br />

metachromatic lipid deposits in nervous system tissue are recommended to confirm a diagnosis. Current<br />

treatment options for MLD are usually focused on managing disease manifestations such as seizures.<br />

Bone marrow transplantation remains controversial, and the effectiveness of enzyme replacement therapy<br />

may be limited due to difficulties crossing the blood-brain barrier. Other treatments under ongoing<br />

investigation include hematopoietic stem cell transplantation and fetal umbilical cord blood<br />

transplantation.<br />

Useful For: Detection of metachromatic leukodystrophy<br />

Interpretation: In metachromatic leukodystrophy (MLD), the activity of serum arylsulfatase A is<br />

greatly reduced. Values expected in MLD are

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