Overview
If your or your child’s healthcare provider (often, a neurologist) suspects metachromatic leukodystrophy based on your symptoms, they’ll likely order these tests:
- Genetic testing: This can identify mutations in the ARSA and PSAP genes, which are responsible for MLD.
- Biochemical testing: This testing measures your levels of sulfatides. Tests include sulfatase enzyme activity and urine (pee) sulfatide levels.
- Brain MRI: A brain MRI can confirm the diagnosis of MLD. It can show the presence or absence of myelin, as there’s a typical pattern of myelin loss in people who have MLD.
You or your child will likely have additional testing if you receive an MLD diagnosis to see how the condition has affected your nervous system. These tests may include:
- Neurocognitive testing.
- Neuropsychological testing.
- Nerve conduction tests.
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