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

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

Journal of inherited metabolic disease - 1 Jan 2004

Sass J O, Sander S, Zschocke J

Abstract excerpt

Isobutyryl-CoA dehydrogenase (IBD) is an enzyme involved in the catabolism of the branched-chain amino acid valine. We report a third and a fourth child with IBD deficiency who were both detected during newborn screening with tandem mass spectrometry and so far do not receive any treatment. The diagnosis was confirmed by biochemical and molecular studies. One of the children is homozygous for the mutation M128I...

Read the complete abstract on PubMed

Topics

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

Share to Acyl-CoA Dehydrogenases
Share to Carnitine
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mass Spectrometry

Share to Mutation, Missense

Share to Neonatal Screening

Share to Oxidoreductases Acting on CH-CH Group Donors

Source

Identifiers

PMID: 15505379
DOI: 10.1023/B:BOLI.0000045798.12425.1b

Genes

ACAD8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.PMID 15505379Read ↗

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

Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.Semantic proximity Read ↗

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.Semantic proximity Read ↗

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.Semantic proximity Read ↗

Three novel variants identified in genes causing Isobutyryl-CoA dehydrogenase deficiency in seven unrelated Chinese familiesSemantic proximity Read ↗

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 ↗

Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.Semantic proximity Read ↗

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.Semantic proximity Read ↗

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.Semantic proximity Read ↗

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

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.Semantic proximity Read ↗

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

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