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

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

Internal medicine (Tokyo, Japan) - 1 Nov 2020

Fuseya Yasuhiro, Sakurai Takeyo, Miyahara Jun-Ichi, Sato Kei, Kaji Seiji, Saito Yoshihiko, Takahashi Makio, Nishino Ichizo, Fukuda Tokiko, Sugie Hideo, Yamashita Hirofumi

Abstract excerpt

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound...

Read the complete abstract on PubMed

Topics

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

Share to Acyl-CoA Dehydrogenase, Long-Chain
Share to Congenital Bone Marrow Failure Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Mutation

Share to Rhabdomyolysis

Source

Open in PubMed Open full text

Identifiers

PMID: 32669490
DOI: 10.2169/internalmedicine.4604-20
PMCID: PMC7691026

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.PMID 32669490Read ↗

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

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.Semantic proximity Read ↗

Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.Semantic proximity Read ↗

One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.Semantic proximity Read ↗

A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature.Semantic proximity Read ↗

Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.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 ↗

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.Semantic proximity Read ↗

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

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).Semantic proximity Read ↗

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