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

Short-chain acyl-coenzyme A dehydrogenase deficiency.

Molecular genetics and metabolism - 1 Dec 2008

Jethva Reena, Bennett Michael J, Vockley Jerry

Abstract excerpt

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Originally described with a relatively severe phenotype, most patients are now diagnosed through newborn screening by tandem mass spectrometry and remain asymptomatic. Molecular analysis of affected individuals has...

Read the complete abstract on PubMed

Topics

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

Share to Infant, Newborn
Share to Acyl-CoA Dehydrogenases
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipid Metabolism, Inborn Errors

Share to Mutation

Share to Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 18977676
DOI: 10.1016/j.ymgme.2008.09.007
PMCID: PMC2720545

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

Short-chain acyl-coenzyme A dehydrogenase deficiency.PMID 18977676Read ↗

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Semantic proximity Read ↗

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

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

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

[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].Semantic proximity Read ↗

Clinical and biochemical features of fatty acid oxidation disorders.Semantic proximity Read ↗

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

First case report of short-chain acyl-CoA dehydrogenase deficiency in China.Semantic proximity Read ↗

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.Semantic proximity Read ↗

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.Semantic proximity Read ↗

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literatureSemantic proximity Read ↗

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.Semantic proximity Read ↗

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