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

Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Journal of inherited metabolic disease - 1 Nov 2012

Dercksen M, Duran M, Ijlst L, Mienie L J, Reinecke C J, Ruiter J P N, Waterham H R, Wanders R J A

Abstract excerpt

Isovaleric acidemia (IVA) is one of the most common organic acidemias found in South Africa. Since 1983, a significant number of IVA cases have been identified in approximately 20,000 Caucasian patients screened for metabolic defects. IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites. In total, 10 IVA...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Biomarkers

Share to Homozygote

Share to Mutation, Missense

Share to Sequence Homology, Amino Acid

Share to South Africa

Share to White People

Source

Identifiers

PMID: 22350545
DOI: 10.1007/s10545-012-9457-2

Genes

IVD

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical variability of isovaleric acidemia in a genetically homogeneous population.PMID 22350545Read ↗

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.Semantic proximity Read ↗

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.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 ↗

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.Semantic proximity Read ↗

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.Semantic proximity Read ↗

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.Semantic proximity Read ↗

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.Semantic proximity Read ↗

Newborn screening for isovaleric acidemia in Quanzhou, China.Semantic proximity Read ↗

A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.Semantic proximity Read ↗

[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].Semantic proximity Read ↗

[Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case].Semantic proximity Read ↗

Genetic mutation profile of isovaleric acidemia patients in Taiwan.Semantic proximity Read ↗

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