| Título : |
Ethylmalonic encephalopathy: a cause of petechiae without alteration in platelet or coagulation tests |
| Tipo de documento : |
documento electrónico |
| Autores : |
Andrés Felipe Escobar González, |
| Fecha de publicación : |
2019 |
| Títulos uniformes : |
EC Paediatrics
|
| Idioma : |
Inglés (eng) |
| Palabras clave : |
Ethylmalonic Encephalopathy Hydrogen Sulfide Ethylmalonic Aciduria Progressive Encephalopathy Petechia Acrocyanosis |
| Resumen : |
Ethylmalonic encephalopathy (EE) is an autosomal recessive disease, rare, whose origin is given by mutations in the gene ETHE1, which codes for the protein of the same name and acts as a sulfur dioxygenase converting it into non-dangerous components such as thiosulfate and sulfate. The mutations generate an accumulation of hydrogen sulfide (H2S), which at high concentrations acts as an inhibitor of cytochrome c oxidase (COX) and acylCoA. Its main sites of accumulation are brain, liver, smooth muscle and colonic mucosa. The deficit of COX produces high levels of lactate in the blood and accumulation of ethylmalonic acid with the consequent excretion of the latter in urine (ethylmalonic aciduria) and, on the other hand, the decrease in short chain acylCoA dehydrogenase causes an increase in C4-C5 acylcarnitines. Biochemically, the disease is characterized by plasma lactate elevation, methylmalonic aciduria, altered levels of C4-C5 acylcarnitines, cytochrome c oxidase deficiency (COX) and increased thiosulfate concentration. Clinically, the affected systems are central nervous system (CNS), gastrointestinal and peripheral vessels, manifesting with neurological alterations characterized by progressive encephalopathy, chronic diarrhea, petechiae and acrocyanosis. The disease is of early onset, and in most patients the disease is severe with death occurring in the first years of life. So far there is no cure for the disease, but treatments that improve clinical manifestations and survival of patients, being useful N-acetylcysteine and metronidazole, which reduce H2S concentrations. |
| Mención de responsabilidad : |
Andres Felipe Escobar González and Diana Carolina Vásquez Pino |
| En línea : |
https://www.ecronicon.com/ecpe/pdf/ECPE-08-00447.pdf |
| Enlace permanente : |
https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4992 |
Ethylmalonic encephalopathy: a cause of petechiae without alteration in platelet or coagulation tests [documento electrónico] / Andrés Felipe Escobar González, . - 2019. Obra : EC PaediatricsIdioma : Inglés ( eng) | Palabras clave : |
Ethylmalonic Encephalopathy Hydrogen Sulfide Ethylmalonic Aciduria Progressive Encephalopathy Petechia Acrocyanosis |
| Resumen : |
Ethylmalonic encephalopathy (EE) is an autosomal recessive disease, rare, whose origin is given by mutations in the gene ETHE1, which codes for the protein of the same name and acts as a sulfur dioxygenase converting it into non-dangerous components such as thiosulfate and sulfate. The mutations generate an accumulation of hydrogen sulfide (H2S), which at high concentrations acts as an inhibitor of cytochrome c oxidase (COX) and acylCoA. Its main sites of accumulation are brain, liver, smooth muscle and colonic mucosa. The deficit of COX produces high levels of lactate in the blood and accumulation of ethylmalonic acid with the consequent excretion of the latter in urine (ethylmalonic aciduria) and, on the other hand, the decrease in short chain acylCoA dehydrogenase causes an increase in C4-C5 acylcarnitines. Biochemically, the disease is characterized by plasma lactate elevation, methylmalonic aciduria, altered levels of C4-C5 acylcarnitines, cytochrome c oxidase deficiency (COX) and increased thiosulfate concentration. Clinically, the affected systems are central nervous system (CNS), gastrointestinal and peripheral vessels, manifesting with neurological alterations characterized by progressive encephalopathy, chronic diarrhea, petechiae and acrocyanosis. The disease is of early onset, and in most patients the disease is severe with death occurring in the first years of life. So far there is no cure for the disease, but treatments that improve clinical manifestations and survival of patients, being useful N-acetylcysteine and metronidazole, which reduce H2S concentrations. |
| Mención de responsabilidad : |
Andres Felipe Escobar González and Diana Carolina Vásquez Pino |
| En línea : |
https://www.ecronicon.com/ecpe/pdf/ECPE-08-00447.pdf |
| Enlace permanente : |
https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4992 |
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