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

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5 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

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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    Moseilhy, A., Hassan, M. M., El Abd, H. S. A., Mohammad, S. A., El Bekay, R., Abdel-Motal, U. M., Ouhtit, A., Zaki, O. K., & 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