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

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

European journal of pediatrics - 1 Feb 2010

Gessler Peter, Buchal Peter, Schwenk Hans U, Wermuth Bendicht

Abstract excerpt

INTRODUCTION: N-Acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder, which may present in the neonatal period with severe hyperammonemia and marked neurological impairment. CASE REPORT: We report on a Turkish family with a patient who died due to hyperammonemia in the neonatal period. Reduced activity of NAGS and carbamyl phosphate synthetase were found at autopsy. A second child who...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to DNA Mutational Analysis
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glutamates

Share to Hyperammonemia

Share to Infant, Newborn

Share to Siblings

Share to Time Factors

Source

Identifiers

PMID: 19533169
DOI: 10.1007/s00431-009-1006-0

Genes

NAGS

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

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.PMID 19533169Read ↗

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectraSemantic proximity Read ↗

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.Semantic proximity Read ↗

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.Semantic proximity Read ↗

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.Semantic proximity Read ↗

Ammonia Storm: Unmasking a Rare Urea Cycle Disorder in AdulthoodSemantic proximity Read ↗

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.Semantic proximity Read ↗

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.Semantic proximity Read ↗

Mutation analysis in patients with N-acetylglutamate synthase deficiency.Semantic proximity Read ↗

Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.Semantic proximity Read ↗

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.Semantic proximity Read ↗

Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.Semantic proximity Read ↗

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.Semantic proximity Read ↗

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