Siblings with Ethylmalonic Encephalopathy: Case Report
Journal Title: The Journal of Pediatric Research - Year 2018, Vol 5, Issue 1
Abstract
Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes a rare inborn error of metabolism, ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy, chronic hemorrhagic diarrhea, recurrent petechiae, orthostatic acrocyanosis, defective cytochrome C oxidase because of hydrogen sulfide accumulation and death in the first years of life. Biochemical hallmarks of the disease are high level of lactate, C4-C5-acylcarnitines in blood and markedly elevated urinary excretion of methylsuccinic and ethylmalonic acids. We report on two siblings who were admitted to a pediatric metabolic unit with acrocyanosis, chronic diarrhea and psychomotor retardation later diagnosed as ethylmalonic encephalopathy. Molecular analyses revealed a homozygous for p.R163Q (c.488 G>A) mutation in ETHE1 gene.
Authors and Affiliations
Çiğdem Seher Kasapkara, Ayşe Aksoy, Emine Polat, Mustafa Kılıç, Serdar Ceylaner
Keywords
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- EP ID EP382395
- DOI 10.4274/jpr.65477
- Views 67
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