ArticleMetabolic brain disease2015
Severe early onset ethylmalonic encephalopathy with West syndrome.
Article in Metabolic brain disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Multi-omics reveals that genes linked to succinylation regulate the onset of epilepsy through metabolic reprogramming.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Case Series of Ethylmalonic Encephalopathy from Southern India.Journal of pediatric genetics · 2023Article
- Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.Orphanet journal of rare diseases · 2021Article
- Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.International journal of molecular sciences · 2020Review
- Novel Compound Heterozygous Variants ofFrontiers in genetics · 2020Article
- Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.Metabolic brain disease · 2018Article
- Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.Metabolic brain disease · 2017Article
- Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.Iranian journal of child neurology · 2017Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.
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