Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation
(2005) In Journal of Inherited Metabolic Disease 28(5). p.673-679- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/cde53472-7c2a-490d-98a5-11205eb15257
- author
- Cleary, M. A. ; Dorland, L. ; de Koning, T. J. LU ; Poll-The, B. T. ; Duran, M. ; Mandell, R. ; Shih, V. E. ; Berger, R. ; Olpin, S. E. and Besley, Guy T.N.
- publishing date
- 2005-01-01
- type
- Contribution to journal
- publication status
- published
- in
- Journal of Inherited Metabolic Disease
- volume
- 28
- issue
- 5
- pages
- 7 pages
- publisher
- Springer
- external identifiers
-
- pmid:16151897
- scopus:25144445324
- ISSN
- 0141-8955
- DOI
- 10.1007/s10545-005-0074-1
- language
- English
- LU publication?
- no
- id
- cde53472-7c2a-490d-98a5-11205eb15257
- date added to LUP
- 2020-03-03 19:04:52
- date last changed
- 2024-04-03 04:08:16
@article{cde53472-7c2a-490d-98a5-11205eb15257, abstract = {{<p>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.</p>}}, author = {{Cleary, M. A. and Dorland, L. and de Koning, T. J. and Poll-The, B. T. and Duran, M. and Mandell, R. and Shih, V. E. and Berger, R. and Olpin, S. E. and Besley, Guy T.N.}}, issn = {{0141-8955}}, language = {{eng}}, month = {{01}}, number = {{5}}, pages = {{673--679}}, publisher = {{Springer}}, series = {{Journal of Inherited Metabolic Disease}}, title = {{Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation}}, url = {{http://dx.doi.org/10.1007/s10545-005-0074-1}}, doi = {{10.1007/s10545-005-0074-1}}, volume = {{28}}, year = {{2005}}, }