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

First case report of short-chain acyl-CoA dehydrogenase deficiency in China.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Jiang MinYan, Liu Li, Peng MinZhi, Liang CuiLi, Sheng HuiYing, Cai YanNa

Abstract excerpt

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. It is caused by rare mutations as well as polymorphic susceptibility variants. We describe here the case of a 1-year-old male patient who had growth and mental retardation, seizures, and recurring fever since infancy. Urinary gas chromatography/mass spectrometry (GC/MS) showed...

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 China
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Intellectual Disability

Share to Lipid Metabolism, Inborn Errors

Share to Polymorphism, Single Nucleotide

Share to Seizures

Source

Identifiers

PMID: 23155713
DOI: 10.1515/jpem-2012-0185

Variants

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

First case report of short-chain acyl-CoA dehydrogenase deficiency in China.PMID 23155713Read ↗

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn ScreeningSemantic proximity Read ↗

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.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 ↗

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

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].Semantic proximity Read ↗

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

Short-chain acyl-coenzyme A dehydrogenase deficiency.Semantic proximity Read ↗

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.Semantic proximity Read ↗

Four novel variants identified in genes causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese familiesSemantic proximity Read ↗

Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.Semantic proximity Read ↗

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