Siblings with Ethylmalonic Encephalopathy: Case Report
| Autor: | Çiğdem Seher Kasapkara, Ayşe Aksoy, Emine Polat, Mustafa Kılıç, Serdar Ceylaner |
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| Jazyk: | English<br />Turkish |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Journal of Pediatric Research, Vol 5, Iss 1, Pp 51-53 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2147-9445 2587-2478 |
| DOI: | 10.4274/jpr.65477 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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