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Article

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

American journal of human genetics - 1 Feb 2004

Tiranti Valeria, D'Adamo Pio, Briem Egill, Ferrari Gianfrancesco, Mineri Rossana, Lamantea Eleonora, Mandel Hanna, Balestri Paolo, Garcia-Silva Maria-Teresa, Vollmer Brigitte, Rinaldo Piero, Hahn Si Houn, Leonard James, Rahman Shamima, Dionisi-Vici Carlo, Garavaglia Barbara, Gasparini Paolo, Zeviani Massimo

Abstract excerpt

Ethylmalonic encephalopathy (EE) is a devastating infantile metabolic disorder affecting the brain, gastrointestinal tract, and peripheral vessels. High levels of ethylmalonic acid are detected in the body fluids, and cytochrome c oxidase activity is decreased in skeletal muscle. By use of a combination of homozygosity mapping, integration of physical and functional genomic data sets, and mutational screening, we...

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Source

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Identifiers

PMID: 14732903
DOI: 10.1086/381653
PMCID: PMC1181922

Genes

ETHE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.PMID 14732903Read ↗

ETHE1 mutations are specific to ethylmalonic encephalopathy.Semantic proximity Read ↗

Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.Semantic proximity Read ↗

Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome.Semantic proximity Read ↗

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.Semantic proximity Read ↗

An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.Semantic proximity Read ↗

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.Semantic proximity Read ↗

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.Semantic proximity Read ↗

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.Semantic proximity Read ↗

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.Semantic proximity Read ↗

Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report.Semantic proximity Read ↗

Severe early onset ethylmalonic encephalopathy with West syndrome.Semantic proximity Read ↗

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