Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

Ahmed Moseilhy, Magdy M. Hassan, Heba S A El Abd, Shaimaa A. Mohammad, Rajaa El Bekay, Ussama M. Abdel-Motal, Allal Ouhtit, Osama K. Zaki, Hatem Zayed

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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 genotype-phenotype correlation of GA I disease.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalMetabolic Brain Disease
DOIs
Publication statusAccepted/In press - Aug 1 2016

Fingerprint

Glutaryl-CoA Dehydrogenase
Frameshift Mutation
Neurologic Manifestations
Blood
Genes
Organic acids
Magnetic resonance imaging
Pathology
Gas chromatography
Magnets
Mass spectrometry
Exons
Complementary DNA
RNA
Urine
Phenotype
Mutation
Acids
Molecular Pathology
Genetic Association Studies

Keywords

  • GC/MS
  • Glutaric acidemia type I
  • Glutaryl-CoA dehydrogenase
  • MRI
  • MS/MS

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

Cite this

Moseilhy, A., Hassan, M. M., El Abd, H. S. A., Mohammad, S. A., El Bekay, R., Abdel-Motal, U. M., ... Zayed, H. (Accepted/In press). Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. Metabolic Brain Disease, 1-6. https://doi.org/10.1007/s11011-016-9879-x

Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. / Moseilhy, Ahmed; Hassan, Magdy M.; El Abd, Heba S A; Mohammad, Shaimaa A.; El Bekay, Rajaa; Abdel-Motal, Ussama M.; Ouhtit, Allal; Zaki, Osama K.; Zayed, Hatem.

In: Metabolic Brain Disease, 01.08.2016, p. 1-6.

Research output: Contribution to journalArticle

Moseilhy, A, Hassan, MM, El Abd, HSA, Mohammad, SA, El Bekay, R, Abdel-Motal, UM, Ouhtit, A, Zaki, OK & Zayed, H 2016, 'Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene', Metabolic Brain Disease, pp. 1-6. https://doi.org/10.1007/s11011-016-9879-x
Moseilhy, Ahmed ; Hassan, Magdy M. ; El Abd, Heba S A ; Mohammad, Shaimaa A. ; El Bekay, Rajaa ; Abdel-Motal, Ussama M. ; Ouhtit, Allal ; Zaki, Osama K. ; Zayed, Hatem. / Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. In: Metabolic Brain Disease. 2016 ; pp. 1-6.
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