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

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Neuromuscular disorders : NMD - 1 May 2017

Schrank Bertold, Schoser Benedikt, Klopstock Thomas, Schneiderat Peter, Horvath Rita, Abicht Angela, Holinski-Feder Elke, Augustis Sarunas

Abstract excerpt

We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). ACAD9 is an assembly factor for the mitochondrial respiratory chain complex I. ACAD9 mutations are recognized as frequent causes of complex I deficiency. Our patient presented with exercise...

Read the complete abstract on PubMed

Topics

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

Share to Acidosis, Lactic
Share to Acyl-CoA Dehydrogenases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Electron Transport Complex I

Share to Exercise Tolerance

Share to Heterozygote

Share to Mitochondrial Diseases

Share to Muscle, Skeletal

Source

Identifiers

PMID: 28279569
DOI: 10.1016/j.nmd.2017.02.005

Genes

ACAD9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.PMID 28279569Read ↗

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.Semantic proximity Read ↗

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.Semantic proximity Read ↗

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.Semantic proximity Read ↗

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.Semantic proximity Read ↗

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.Semantic proximity Read ↗

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.Semantic proximity Read ↗

Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.Semantic proximity Read ↗

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

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

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.Semantic proximity Read ↗

[Mitochondrial complexⅠdeficiency nuclear type 20 caused by compound heterozygous ACAD9 mutations: a case report].Semantic proximity Read ↗

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.Semantic proximity Read ↗

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