Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
| Autor: | Simon E. Olpin, T. J. de Koning, B. T. Poll-The, Vivian E. Shih, Ruud Berger, M. A. Cleary, M. Duran, G. T. N. Besley, Roseann Mandell, Lambertus Dorland |
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| Přispěvatelé: | AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, Paediatric Neurology, Neurology, Laboratory Genetic Metabolic Diseases |
| Jazyk: | angličtina |
| Rok vydání: | 2005 |
| Předmět: |
Male
Ornithine medicine.medical_specialty Orotic acid animal structures Ornithine aminotransferase Glutamine Arginine Gastroenterology Ornithine aminotransferase deficiency Diagnosis Differential chemistry.chemical_compound Neonatal Screening Ammonia Internal medicine Genetics medicine Citrulline otorhinolaryngologic diseases Humans Hyperammonemia Amino Acid Metabolism Inborn Errors Genetics (clinical) Orotic Acid Ornithine-Oxo-Acid Transaminase business.industry fungi Infant Newborn food and beverages Fibroblasts medicine.disease Endocrinology chemistry Mutation Female Differential diagnosis Presentation (obstetrics) business medicine.drug |
| Zdroj: | Journal of inherited metabolic disease, 28(5), 673-679. Springer Netherlands |
| ISSN: | 0141-8955 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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