|Other Titles:||Genomic interaction and metabolic levels|
|Abstract:||Canavan disease (CD) is an autosomal recessive disorder, characterized by spongiform degeneration of the white matter of the brain. Aspartoacylase (ASPA) hydrolyses N-acetylaspartic acid to aspartate and acetate. Mutation of the gene results in enzyme deficiency to result CD. The clinical features seen in the disease are head lag, macrocephaly, hypotonia and mental retardation. More than forty five mutations have been identified in the ASPA gene. Pathophysiological abnormalities seen in CD is likely due to abnormal metabolic levels of NAA, aspartate, acetate, aspartate aminotransferase, glutamate, glutamate dehydrogenase, g-aminobutyric acid, and ketoglutarate dehydrogenase complex. These pathways are useful to understand possible therapeutical targets and pharmacological manipulations in CD.|
|Subject Headings:||ASPA knockout mouse|
|Appears in Collections:||Review Articles|
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