Canavan Disease
Alternate Names : Aspartoacylase Deficiency, Spongy Degeneration of the Brain
Canavan Disease Diagnosis & Tests
Tests: - Head CT showing degeneration of white matter (leukodystrophy)
- Head MRI scan showing degeneration of white matter (leukodystrophy)
- Urine chemistry, increased N-acetylaspartic acid (increased secretion)
- CSF chemistry, increased N-acetylaspartic acid (increased levels)
- Blood chemistry, increased N-acetylaspartic acid (increased levels)
- Genetic testing for aspartoacylase gene mutations
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