Child Neurology: Ethylmalonic encephalopathy
نویسندگان
چکیده
منابع مشابه
Ethylmalonic encephalopathy and SCAD deficiency
Ethylmalonic encephalopathy is a devastating, infantile, autosomal recessive, metabolic disorder caused by defects in the mitochondrial sulfur dioxygenase, ETHE1, and characterized by ethylmalonic and methylsuccinic aciduria, lactic acidemia associated with developmental delay, orthostatic acrocyanosis, recurrent petechiae, chronic diarrhea, and abnormalities on brain MRI. The authors also repo...
متن کاملNeurological and Vascular Manifestations of Ethylmalonic Encephalopathy
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-acylcarniti...
متن کاملEthylmalonic encephalopathy. Another patient from Kuwait.
We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were c...
متن کاملAltered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Hydrogen sulfide (sulfide, H(2)S) is a colorless, water-soluble gas with a typical smell of rotten eggs. In the past, it has been investigated for its role as a potent toxic gas emanating from sewers and swamps or as a by-product of industrial processes. At high concentrations, H(2)S is a powerful inhibitor of cytochrome c oxidase; in trace amounts, it is an important signaling molecule, like n...
متن کاملThe role of methionine in ethylmalonic encephalopathy with petechiae.
BACKGROUND Among patients with ethylmalonic aciduria, a subgroup with encephalopathy, petechial skin lesions, and often death in infancy is distinct from those with short-chain acyl-coenzyme A dehydrogenase deficiency or multiple acyl-coenzyme A dehydrogenase deficiency. The nature of the molecular defect in this subgroup is unknown, and the source of the ethylmalonic acid has been unclear. O...
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ژورنال
عنوان ژورنال: Neurology
سال: 2020
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000009144