ArticleAmerican journal of medical genetics. Part A2019
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Ethylmalonic and Methylsuccinic Acids Disrupt Bioenergetics and Induce Mitochondrial Permeability Transition Through Thiol Redox Modulation in Rat Striatum: Potential Mechanisms Involved in Ethylmalonic Encephalopathy.Neurochemical research · 2026Article
- Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.Molecular genetics and metabolism reports · 2025Article
- Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?International journal of molecular sciences · 2023Review
- Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective.Pharmaceutics · 2022Review
- AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives.Orphanet journal of rare diseases · 2022Review
- Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.Cellular and molecular neurobiology · 2022Review
- Hydrogen sulphide in liver glucose/lipid metabolism and non-alcoholic fatty liver disease.European journal of clinical investigation · 2022Review
- Ethylmalonic encephalopathy masquerading as meningococcemia.Cold Spring Harbor molecular case studies · 2022Article
- Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.JAMA network open · 2021Article
- Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.Orphanet journal of rare diseases · 2021Article
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- Current progress in the therapeutic options for mitochondrial disorders.Physiological research · 2020Article
- Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies.Pharmaceutics · 2020Review
- Compromised therapeutic value of pediatric liver transplantation in ethylmalonic encephalopathy: A case report.World journal of gastroenterology · 2020Article
- 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
- Clinical trials in mitochondrial disorders, an update.Molecular genetics and metabolismReview
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
Abstract
Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the ETHE1 gene that encodes the mitochondrial sulfur dioxygenase. It is characterized by neurodevelopmental delay and regression, pyramidal and extrapyramidal signs, recurrent petechiae, chronic diarrhea, and orthostatic acrocyanosis. Laboratory findings include elevated serum levels of lactate and C4-C5 acylcarnitines, and elevated urinary excretion of ethylmalonic acid and C4-C6 acylglycines, notably isobutyrylglycine and 2-methylbutyrylglycine. These findings are attributed to deficiency of the mitochondrial sulfur dioxygenase resulting in toxic accumulation of hydrogen sulfide metabolites in vascular endothelium and mucosal cells of the large intestine. Medical management has thus far been directed toward decreasing the accumulation of hydrogen sulfide metabolites using a combination of metronidazole and N-acetylcysteine. More recently, orthotopic liver transplant (OLT) has been reported as a new therapeutic option for EE. Here, we report two additional cases of EE who achieved psychomotor developmental improvement after 7- and 22-months following OLT. The second case serves as the longest developmental outcome follow-up reported, thus far, following OLT for EE. This report provides additional evidence to validate OLT as a promising therapeutic approach for what was considered to be a fatal disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.