Canavan disease

Surendran, Sankar

Canavan disease

dc.contributor.author	Surendran, Sankar	de
dc.date.accessioned	2008-06-17T14:00:35Z
dc.date.available	2008-06-17T14:00:35Z
dc.date.issued	2005-09-30	de
dc.description.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.	en
dc.identifier.issn	1611-2156	de
dc.identifier.uri	http://hdl.handle.net/2003/25655
dc.identifier.uri	http://dx.doi.org/10.17877/DE290R-8174
dc.language.iso	en	de
dc.relation.ispartofseries	EXCLI Journal ; Vol. 4, 2005	en
dc.subject	ASPA knockout mouse	en
dc.subject	aspartoacylase	en
dc.subject	Canavan disease	en
dc.subject	neurodegeneration	en
dc.subject	spongiform degeneration	en
dc.subject	tremor rat	en
dc.subject.ddc	610
dc.title	Canavan disease	en
dc.title.alternative	Genomic interaction and metabolic levels	en
dc.type	Text	de
dc.type.publicationtype	article	de
dcterms.accessRights	open access
eldorado.dnb.zdberstkatid	2132560-1

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