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2017 ; 11
(2
): 57-60
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Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy
#MMPMID28698729
Tavasoli AR
; Rostami P
; Ashrafi MR
; Karimzadeh P
Iran J Child Neurol
2017[Spr]; 11
(2
): 57-60
PMID28698729
show ga
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.