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

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

Journal of inherited metabolic disease - 1 Dec 2010

Wolfe Lynne A, He Miao, Vockley Jerry, Payne Nicole, Rhead William, Hoppel Charles, Spector Elaine, Gernert Kim, Gibson K Michael

Abstract excerpt

We describe a 22-year-old male who developed severe hypoglycemia and lethargy during an acute illness at 4 months of age and subsequently grew and developed normally. At age 4 years he developed recurrent vomiting with mild hyperammonemia and dehydration requiring frequent hospitalizations. Glutaric aciduria Type II was suspected based upon biochemical findings and managed with cornstarch, carnitine and...

Read the complete abstract on PubMed

Topics

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

Share to Electron-Transferring Flavoproteins
Share to Electron Transport Complex II

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

Share to Electron Transport Complex III

Share to Iron-Sulfur Proteins

Share to Metabolism, Inborn Errors

Share to Molecular Docking Simulation

Share to Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Share to Oxidoreductases Acting on CH-NH Group Donors

Source

Open in PubMed Open full text

Identifiers

PMID: 21088898
DOI: 10.1007/s10545-010-9246-8
PMCID: PMC3970109

Genes

ETFDH

Variants

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

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.PMID 21088898Read ↗

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.Semantic proximity Read ↗

[Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].Semantic proximity Read ↗

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.Semantic proximity Read ↗

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.Semantic proximity Read ↗

ETF dehydrogenase advances in molecular genetics and impact on treatment.Semantic proximity Read ↗

Late-onset form of beta-electron transfer flavoprotein deficiency.Semantic proximity Read ↗

Human cDNA encoding ETF dehydrogenase (ETF:ubiquinone oxido-reductase), and mutations in glutaric acidemia type II.Semantic proximity Read ↗

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.Semantic proximity Read ↗

An infant with glutaric aciduria type IIc diagnosed with a novel mutation.Semantic proximity Read ↗

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.Semantic proximity Read ↗

Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.Semantic proximity Read ↗

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.Semantic proximity Read ↗

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