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

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.

Journal of inherited metabolic disease - 1 Jul 2022

Han Sangwoo T, Anderson Katherine J, Bjornsson Hans T, Longo Nicola, Valle David

Abstract excerpt

Ornithine transcarbamylase deficiency (OTCD) is an X-linked inborn error caused by loss of function variants in the OTC gene typically associated with severe neonatal hyperammonemia. Rare examples of late-onset OTCD have also been described. Here, we describe an OTC promoter variant, c.-106C>A, in a conserved HNF4a binding site, identified in two male siblings in Family 1 whose first and only recognized episodes...

Read the complete abstract on PubMed

Topics

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

Share to Ornithine Carbamoyltransferase
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Age of Onset

Share to Alleles

Share to Hyperammonemia

Share to Ornithine Carbamoyltransferase Deficiency Disease

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 35605046
DOI: 10.1002/jimd.12524
PMCID: PMC10323875

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.PMID 35605046Read ↗

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.Semantic proximity Read ↗

Mutations and polymorphisms in the human ornithine transcarbamylase gene.Semantic proximity Read ↗

The functional impact of 1,570 SNP-accessible missense variants in human <i>OTC</i>Semantic proximity Read ↗

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.Semantic proximity Read ↗

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Two commonly reported incidental variants in OTC are associated with late-onset disease.Semantic proximity Read ↗

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.Semantic proximity Read ↗

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy maleSemantic proximity Read ↗

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.Semantic proximity Read ↗

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.Semantic proximity Read ↗

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

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