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

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene.

Acta paediatrica (Oslo, Norway : 1992) - 1 May 2004

Valik D, Sedova Z, Starha J, Zeman J, Hruba E, Dvorakova L

Abstract excerpt

UNLABELLED: A full-term female offspring of a first and uneventful pregnancy presented at 60 h of life with irritability, tachypnea and respiratory alkalosis progressing to deep coma with clinically dominant circulatory failure, tachycardia and hypotension. Diagnosis of ornithine transcarbamylase (OTC) deficiency was made on the basis of hyperammonaemia, hypocitrullinaemia and extreme hyperexcretion of orotic...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases, Metabolic, Inborn
Share to OTC gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperammonemia

Share to Infant, Newborn

Share to Mutation

Share to Ornithine Carbamoyltransferase

Share to Ornithine Carbamoyltransferase Deficiency Disease

Source

Identifiers

PMID: 15174800

Genes

OTC

Variants

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

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene.PMID 15174800Read ↗

A Novel Two–Nucleotide Deletion in the Ornithine Transcarbamylase Gene Causing Fatal Hyperammonia in Early PregnancySemantic proximity Read ↗

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.Semantic proximity Read ↗

Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe).Semantic proximity Read ↗

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.Semantic proximity Read ↗

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.Semantic proximity Read ↗

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

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patientsSemantic proximity Read ↗

[Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].Semantic proximity Read ↗

Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.Semantic proximity Read ↗

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

Fatal initial adult-onset presentation of urea cycle defect.Semantic proximity Read ↗

[Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review].Semantic proximity Read ↗

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