Show simple item record

AuthorZaki, Osama K
AuthorKrishnamoorthy, Navaneethakrishnan
AuthorEl Abd, Heba S
AuthorHarche, Soumaya A
AuthorMattar, Reem A
AuthorAl Disi, Rana S
AuthorNofal, Mariam Y
AuthorEl Bekay, Rajaa
AuthorAhmed, Khalid A
AuthorGeorge Priya Doss, C
AuthorZayed, Hatem
Available date2017-12-21T07:31:14Z
Publication Date2017-02-01
Publication NameMetabolic Brain Diseaseen_US
Identifierhttp://dx.doi.org/10.1007/s11011-016-9896-9
CitationZaki, O.K., Krishnamoorthy, N., El Abd, H.S. et al. Metab Brain Dis (2017) 32: 171. https://doi.org/10.1007/s11011-016-9896-9
ISSN0885-7490
URIhttp://hdl.handle.net/10576/6009
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, which catalyzes the hydrolysis of N-acetyl-L-aspartate (NAA) into aspartate and acetate. 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 two Egyptian patients diagnosed with CD, the first patient harbors five missense mutations (c.427 A > G; p. I143V, c.502C > T; p. R168C, c.530 T > C; p. I177T, c.557 T > C; p. V186D c.548C > T; p. P183L) and a silent mutation (c.693 C > T; p. Y231Y). The second patient was found to be homozygous for two missense mutations (c.427 A > G; p. I143V and c.557 T > A; p. V186D). Furthermore, molecular modeling of the novel mutation p. P183L provides an instructive explanation of the mutational impact on the protein structure that can affect the function of the ASPA. Here, the clinical, radiological, and biochemical profile of the two patients are reviewed in details.
Languageen
PublisherSpringer US
SubjectAspartoacylase
SubjectCanavan disease
SubjectIn silico mutagenesis
SubjectMRI
SubjectMRS
SubjectMolecular modeling
SubjectN-acetyl-aspartate
TitleTwo patients with Canavan disease and structural modeling of a novel mutation.
TypeArticle
Pagination171–177
Issue Number1
Volume Number32
ESSN1573-7365


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record