Abstract
More studies are needed to elucidate the pathophysiology of Canavan disease and how the inability to hydrolyze NAA leads to spongy degeneration. The creation of an animal model would be helpful in the understanding of the disease and the formulation of gene therapy.
MeSH terms
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Amidohydrolases / deficiency
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Amidohydrolases / genetics
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Animals
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Aspartic Acid / analogs & derivatives
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Aspartic Acid / metabolism
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Canavan Disease* / diagnosis
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Canavan Disease* / epidemiology
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Canavan Disease* / genetics
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Canavan Disease* / metabolism
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Canavan Disease* / therapy
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Child
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Diagnosis, Differential
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Disease Models, Animal
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Genetic Counseling
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Genetic Testing
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Genotype
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Humans
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Jews / genetics
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Magnetic Resonance Imaging
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Mutation / genetics
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Phenotype
Substances
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Aspartic Acid
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N-acetylaspartate
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Amidohydrolases
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aspartoacylase