ArticleJournal of inherited metabolic disease2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Article in Journal of inherited metabolic disease, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.Orphanet journal of rare diseases · 2015Pooled it
- Single amino acid supplementation in aminoacidopathies: a systematic review.Orphanet journal of rare diseases · 2014Pooled it
- Early proteomic and metabolic signatures of liver and eye in OAT-deficient mice.Experimental eye research · 2026Article
- Gyrate atrophy of the choroid and retina: a tertiary center experience.Orphanet journal of rare diseases · 2026Article
- Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.Molecular genetics and metabolism reports · 2025Article
- Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?Acta ophthalmologica · 2025Review
- Beyond Ornithine Metabolism in Gyrate Atrophy: Tissue-Specific Proteomic Insights into Neonatal and Adult OAT Deficiency.bioRxiv : the preprint server for biology · 2025Article
- Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.Journal of inherited metabolic disease · 2025Article
- Proteo-metabolomics and patient tumor slice experiments point to amino acid centrality for rewired mitochondria in fibrolamellar carcinoma.Cell reports. Medicine · 2024Article
- Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.EBioMedicine · 2024Article
- Liver-directed gene therapy for ornithine aminotransferase deficiency.EMBO molecular medicine · 2023Article
- A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy.Molecular genetics and metabolism reports · 2022Article
- Inborn errors of enzymes in glutamate metabolism.Journal of inherited metabolic disease · 2020Review
- Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in theBiochemia medica · 2018Article
- The phenotype of adult versus pediatric patients with inborn errors of metabolism.Journal of inherited metabolic disease · 2018Article
- Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.Ophthalmic genetics · 2018Article
- Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways.Biology · 2017Review
- Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.Indian journal of pediatrics · 2016Article
- Reference values of amino acids and of common clinical chemistry in plasma of healthy infants aged 1 and 4 months.Journal of inherited metabolic disease · 2016Article
- Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.
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16151897What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.