Published in: First Personal Medical Congress
COI code: IPMCMED01_138
Paper Language: English
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Authors First report of an Ethylmalonic encephalopathy (EE) patient in IranVadieh Ghodsinejsd - Medical genetic center ,national institute of genetic engineering and biotechnology
Omid Aryani - Iran University of Medical Sciences,Tehran, Iran
Masumeh Dehghan - National Institute for Genetic Engineering and Biotechnology(NIGEB), Tehran, Iran
Arash Kadivar - National Institute for Genetic Engineering and Biotechnology(NIGEB), Tehran, Iran
Abstract:Ethylmalonic encephalopathy (EE) is an autosomal recessive disease of early infancy characterized by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhea. EE is caused by mutations in the ETHE1 gene that codes for a mitochondrial protein located into the matrix of the organelle.EE is characterized by psychomotor regression and generalizedhypotonia, later evolving into spastic tetraparesis, dystonia, and eventually global neurological failure.Lactic acidosis, high levels of ethylmalonic acid (EMA) in urine, and high levelsof C4 and C5 acylcarnitines in blood are the biochemical hallmarks of this disease.Symmetrical necrotic lesions in the deep gray matter structures are the main neuropathological features of the disease.In our patient, laboratory finding and MRI features suggest the diagnosis of EE, therefore PCR- sequencing of ETHE1 gene was performed. Seven sets of primers were designed to amplify the coding regions and exon–intron boundaries of the ETHE1gene using Gene Runner .Sequence analysis showed a homozygous c.1461C> T (p.R487W) mutation in exon 4 of the patient, which was previously reported.Since the first report of EE by Burlina et al in 1991, 46 other patients and 31 different mutations havebeen reported in the literature. We have described one additional EEpatient;this report broadens the phenotype and genotype of EE in Iran.
Keywords:key wordsETHE1, encephalopathy, ethylmalonic acid, EMA
COI code: IPMCMED01_138
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Ghodsinejsd, Vadieh; Omid Aryani; Masumeh Dehghan & Arash Kadivar, 2016, First report of an Ethylmalonic encephalopathy (EE) patient in Iran, First Personal Medical Congress, تهران, دانشگاه علوم پزشكي ايران - پژوهشكده ملي مهندسي ژنتيك و زيست فناوري ايران، مركز همكاري هاي فناوري و نوآوري هاي رياست جمهوري, https://www.civilica.com/Paper-IPMCMED01-IPMCMED01_138.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
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Paper No.: 936
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