neurological and vascular manifestations caused by ethe1 gene mutation: report of two cases of ethylmalonic encephalopathy abstract
نویسندگان
چکیده
abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs and vascular lesions including petechial purpura, orthostatic acrocyanosis and chronic hemorrhagic diarrhoea. biochemical hallmarks of the disease are persistently high levels of lactate, and c4–c5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (ema) acids. here we report two patients with ee that in one patient mutation analysis based on pcr amplification and sequencing of all coding exons and the exon-intron boundaries including of the ethe1 gene showed a homozygous mutation, c.c487t in exon 4.
منابع مشابه
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarniti...
متن کاملneurological and vascular manifestations of ethylmalonic encephalopathy
how to cite this article: tavasoli ar, rostami p, ashrafi mr, karimzadeh p. neurological and vascular manifestations of ethylmalonic encephalopathy. iran j child neurol. spring 2017; 11(2):57-60. abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, a...
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ETHE1 is an iron-containing protein from the metallo β-lactamase family involved in the mitochondrial sulfide oxidation pathway. Mutations in ETHE1 causing loss of function result in sulfide toxicity and in the rare fatal disease Ethylmalonic Encephalopathy (EE). Frequently mutations resulting in depletion of ETHE1 in patient cells are due to severe structural and folding defects. However, some...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۱۱، شماره ۲، صفحات ۰-۰
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