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AuthorMoseilhy, Ahmed
AuthorHassan, Magdy M.
AuthorEl Abd, Heba S. A.
AuthorMohammad, Shaimaa A.
AuthorEl Bekay, Rajaa
AuthorAbdel-Motal, Ussama M.
AuthorOuhtit, Allal
AuthorZaki, Osama K.
AuthorZayed, Hatem
Available date2017-01-15T05:20:47Z
Publication Date2016-08-17
Publication NameMetabolic Brain Diseaseen_US
Identifierhttp://dx.doi.org/10.1007/s11011-016-9879-x
CitationMoseilhy, A., Hassan, M.M., El Abd, H.S.A. et al. Metab Brain Dis (2017) 32: 35.
ISSN0885-7490
IdentifierJournal no. 11011
URIhttp://hdl.handle.net/10576/5166
AbstractAbstract To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation( s) that may be responsible for the disease phenotype. MRI was performed on the patient using the 1.5 T magnet, biochemical analysis was carried out using gas chromatography/mass spectrometry on the patient’s dried blood spot, and the patient’s organic acids were measured in dried blood and a urine sample using MS/MS and GC/MS, respectively. Total RNA was isolated from the patient’s peripheral blood, and the synthesized cDNA was bi-directionally sequenced. The patient exhibited clinical features and MRI findings compatible with a diagnosis of GA I. The abnormal elevation of organic acids in the urine supported the presence of glutaryl-CoA dehydrogenase deficiency. Gene sequencing revealed a novel homozygous frameshift mutation, c.644_645insCTCG; p.(Pro217Leufs*14), in exon 8 of the GCDH gene. The present study revealed a novel frameshift mutation responsible for a severe GA I phenotype in an Egyptian patient. This novel mutation will ultimately contribute to a better understanding of the molecular pathology of the disease and shed light on the intricacies of the genotypephenotype correlation of GA I disease.
Languageen
PublisherSpringer US
SubjectGlutaric acidemia type I
SubjectGlutaryl-CoA dehydrogenase
SubjectMRI
SubjectMS/MS
SubjectGC/MS
TitleSevere neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
TypeArticle
Pagination35-40
Issue Number1
Volume Number32
dc.identifier.essn 1573-7365


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