Literature DB >> 16151897

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

M A Cleary1, L Dorland, T J de Koning, B T Poll-The, M Duran, R Mandell, V E Shih, R Berger, S E Olpin, G T N Besley.   

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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Year:  2005        PMID： 16151897     DOI： 10.1007/s10545-005-0074-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

1.  Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.

Authors:  V E Shih; J D Schulman
Journal:  Clin Chim Acta       Date:  1970-01       Impact factor: 3.786

2.  Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia.

Authors:  K Heinänen; K Näntö-Salonen; M Komu; M Erkintalo; A Alanen; O J Heinonen; K Pulkki; E Nikoskelainen; I Sipilä; O Simell
Journal:  Eur J Clin Invest       Date:  1999-12       Impact factor: 4.686

3.  Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

Authors:  Y Mashima; A Murakami; R G Weleber; N G Kennaway; L Clarke; T Shiono; G Inana
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

4.  Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.

Authors:  T Wang; A M Lawler; G Steel; I Sipila; A H Milam; D Valle
Journal:  Nat Genet       Date:  1995-10       Impact factor: 38.330

5.  Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.

Authors:  V E Shih; R Mandell; A Herzfeld
Journal:  Clin Chim Acta       Date:  1982-02-05       Impact factor: 3.786

6.  A new sensitive and convenient assay of ornithine aminotransferase.

Authors:  T Ohura; E Kominami; N Katunuma
Journal:  J Nutr Sci Vitaminol (Tokyo)       Date:  1983-04       Impact factor: 2.000

7.  Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

Authors:  J Michaud; G N Thompson; L C Brody; G Steel; C Obie; G Fontaine; K Schappert; C G Keith; D Valle; G A Mitchell
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
  7 in total
  12 in total

1.  The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

Authors:  Monique G M de Sain-van der Velden; Piero Rinaldo; Bert Elvers; Mick Henderson; John H Walter; Berthil H C M T Prinsen; Nanda M Verhoeven-Duif; Tom J de Koning; Peter van Hasselt
Journal:  JIMD Rep       Date:  2012-02-24

2.  The phenotype of adult versus pediatric patients with inborn errors of metabolism.

Authors:  Jean-Marie Saudubray; Fanny Mochel
Journal:  J Inherit Metab Dis       Date:  2018-06-06       Impact factor: 4.982

3.  Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.

Authors:  Xuan Cui; Ruben Jauregui; Karen Sophia Park; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2018-05-14       Impact factor: 1.803

4.  Reference values of amino acids and of common clinical chemistry in plasma of healthy infants aged 1 and 4 months.

Authors:  Elisabeth Haschke-Becher; Alexander Kainz; Claude Bachmann
Journal:  J Inherit Metab Dis       Date:  2015-07-31       Impact factor: 4.982

5.  Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.

Authors:  Tanyel Zubarioglu; Ertugrul Kiykim; Mehmet Serif Cansever; Cigdem Aktuglu Zeybek
Journal:  Indian J Pediatr       Date:  2016-04-01       Impact factor: 1.967

Review 6.  The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Authors:  Diego Martinelli; Daria Diodato; Emanuela Ponzi; Magnus Monné; Sara Boenzi; Enrico Bertini; Giuseppe Fiermonte; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2015-03-11       Impact factor: 4.123

Review 7.  Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways.

Authors:  Antonin Ginguay; Luc Cynober; Emmanuel Curis; Ioannis Nicolis
Journal:  Biology (Basel)       Date:  2017-03-07

8.  Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Authors:  Marija Zekušić; Ana Škaričić; Ksenija Fumić; Dunja Rogić; Tamara Žigman; Danijela Petković Ramadža; Nenad Vukojević; Véronique Rüfenacht; Valentina Uroić; Ivo Barić
Journal:  Biochem Med (Zagreb)       Date:  2018-10-15       Impact factor: 2.313

9.  The human neonatal small intestine has the potential for arginine synthesis; developmental changes in the expression of arginine-synthesizing and -catabolizing enzymes.

Authors:  Eleonore S Köhler; Selvakumari Sankaranarayanan; Christa J van Ginneken; Paul van Dijk; Jacqueline L M Vermeulen; Jan M Ruijter; Wouter H Lamers; Elisabeth Bruder
Journal:  BMC Dev Biol       Date:  2008-11-10       Impact factor: 1.978

Review 10.  Single amino acid supplementation in aminoacidopathies: a systematic review.

Authors:  Danique van Vliet; Terry G J Derks; Margreet van Rijn; Martijn J de Groot; Anita MacDonald; M Rebecca Heiner-Fokkema; Francjan J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2014-01-13       Impact factor: 4.123
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