Canavan disease: a rare case report
DOI:
https://doi.org/10.18203/2349-3291.ijcp20242344Keywords:
Autosomal recessive, Leukodystrophy, Aspartoacylase, N-acetyl-L-aspartic acidAbstract
Canavan disease is a very rare, fatal, autosomal recessive neurodegenerative disorder. It usually manifests during infancy. Mutations in the aspartoacylase (ASPA) gene (17p13.3), which code for the aspartoacylase enzyme, cause this disease. It is a leukodystrophy and affects white matter of the brain. This disease is associated with deficiency of an essential enzyme, aspartoacylase. The deficiency leads to loss of white matter in brain, leading to defective transmission of nerve signals. This disorder affects all ethnic groups, but occurs with greater frequency, in individuals of Ashkenazi Jewish descent.
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References
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