Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Severe early onset ethylmalonic encephalopathy with West syndrome.

Metabolic brain disease - 1 Dec 2015

Papetti Laura, Garone Giacomo, Schettini Livia, Giordano Carla, Nicita Francesco, Papoff Paola, Zeviani Massimo, Leuzzi Vincenzo, Spalice Alberto

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Magnetic Resonance Imaging

Share to Mitochondrial Proteins

Share to Muscle, Skeletal

Share to Nucleocytoplasmic Transport Proteins

Share to Spasms, Infantile

Source

Identifiers

PMID: 26194623
DOI: 10.1007/s11011-015-9707-8

Genes

ETHE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe early onset ethylmalonic encephalopathy with West syndrome.PMID 26194623Read ↗

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

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

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

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

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

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

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.Semantic proximity Read ↗

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

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

Epileptic encephalopathies in infants and children.Semantic proximity Read ↗

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.