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AuthorZaki, Osama K
AuthorEl Abd, Heba S
AuthorMohamed, Shaimaa A
AuthorZayed, Hatem
Available date2018-02-08T11:27:29Z
Publication Date2016-06-01
Publication NameMetabolic Brain Diseaseen_US
Identifierhttp://dx.doi.org/10.1007/s11011-015-9772-z
CitationZaki, O.K., El Abd, H.S., Mohamed, S.A. et al. Metab Brain Dis (2016) 31: 573. https://doi.org/10.1007/s11011-015-9772-z
ISSN0885-7490
URIhttp://hdl.handle.net/10576/6295
AbstractCanavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA. It is a severe progressive leukodystrophy characterized by spongiform degeneration of the white matter of the brain. CD occurs frequently among Ashkenazi Jewish population, however it has been reported in many other ethnic groups with significantly lower frequency. Here, we report on a 2 year-old Egyptian child with severe CD who harbors a novel homozygous missense variant (c.91G > T, p.V31F) in the ASPA gene. The clinical, radiological, and molecular genetic profiles are reviewed in details.
Languageen
PublisherSpringer Verlag (Germany)
SubjectAspartoacylase
SubjectCanavan disease
SubjectMRI
SubjectMRS
SubjectN-acetyl-aspartate
TitleNovel mutation in an Egyptian patient with infantile Canavan disease.
TypeArticle
Pagination573–577
Issue Number3
Volume Number31
dc.identifier.essn 1573-7365


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