Author/Authors :
TAVASOLI، Ali Reza نويسنده Pediatric Neurology Division, Neurometabolic Registry Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran , , Rostami، Parastoo نويسنده Department of Pediatric Endocrinology, Childrens Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Rostami, Parastoo , ASHRAFI، Mahmoud Reza نويسنده Pediatric Neurology Division, Neurometabolic Registry Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran , , Karimzadeh، Parvaneh نويسنده ,
Abstract :
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 diarrhea. Biochemical hallmarks of the disease are persistently high level 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 as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children’s Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia.
