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

Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Journal of inherited metabolic disease - 1 Sept 2021

Fogh Sarah, Dipace Graziana, Bie Anne, Veiga-da-Cunha Maria, Hansen Jakob, Kjeldsen Margrethe, Mosegaard Signe, Ribes Antonia, Gregersen Niels, Aagaard Lars, Van Schaftingen Emile, Olsen Rikke K J

Abstract excerpt

Ethylmalonic acid (EMA) is a major and potentially cytotoxic metabolite associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency, a condition whose status as a disease is uncertain. Unexplained high EMA is observed in some individuals with complex neurological symptoms, who carry the SCAD gene (ACADS) variants, c.625G>A and c.511C>T. The variants have a high allele frequency in the general population,...

Read the complete abstract on PubMed

Topics

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

Share to Acyl-CoA Dehydrogenase
Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Genetic Variation

Share to Genotype

Share to HEK293 Cells

Share to Lipid Metabolism, Inborn Errors

Share to Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 33973257
DOI: 10.1002/jimd.12394
PMCID: PMC8518634

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?PMID 33973257Read ↗

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.Semantic proximity Read ↗

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.Semantic proximity Read ↗

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 aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.Semantic proximity Read ↗

Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.Semantic proximity Read ↗

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.Semantic proximity Read ↗

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.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 ↗

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.Semantic proximity Read ↗

Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.Semantic proximity Read ↗

Clinical and biochemical characterization of four patients with mutations in ECHS1.Semantic proximity Read ↗

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