Article

Three novel variants identified in genes causing Isobutyryl-CoA dehydrogenase deficiency in seven unrelated Chinese families

2026-06-22

Abstract excerpt

<title>Abstract</title> Background Isobutyryl-CoA dehydrogenase deficiency (IBDD) is a rare autosomal recessive organic acidemia. Here, we present the clinical, biochemical, and molecular findings from seven individuals with IBDD, aiming to define its genetic etiology and evaluate the utility of genetic testing for early diagnosis. Methods We analyzed blood acylcarnitine profiles using tandem mass spectrom...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9ebf95bd-eae2-57f1-9c13-6348a8b0ef41
DOI: 10.21203/rs.3.rs-9373186/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Three novel variants identified in genes causing Isobutyryl-CoA dehydrogenase deficiency in seven unrelated Chinese familiesDOI 10.21203/rs.3.rs-9373186/v1Read

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.Semantic proximity Read

Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.Semantic proximity Read

Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.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

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.Semantic proximity Read

Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger SequencingSemantic proximity Read

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.Semantic proximity Read

Clinical, biochemical and molecular characterization of newborns with fatty acid β-oxidation disorders: new variants in theACADM,ACADVLandSLC22A5genesSemantic proximity Read

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese populationSemantic proximity Read

Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.Semantic proximity Read

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.Semantic proximity Read

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