Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
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- 作者：Ahmed Moseilhy ; Magdy M. Hassan ; Heba S. A. El Abd…
- 关键词：Glutaric acidemia type I ; Glutaryl ; CoA dehydrogenase ; MRI ; MS/MS ; GC/MS
- 刊名：Metabolic Brain Disease
- 出版年：2017
- 出版时间：February 2017
- 年：2017
- 卷：32
- 期：1
- 页码：35-40
- 全文大小：
- 刊物类别：Biomedical and Life Sciences
- 刊物主题：Neurosciences; Neurology; Metabolic Diseases; Biochemistry, general; Oncology;
- 出版者：Springer US
- ISSN：1573-7365
- 卷排序：32
文摘
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.