Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation

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. (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:
author
; ; ; ; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
in
Journal of Inherited Metabolic Disease
volume
28
issue
5
pages
7 pages
publisher
Springer
external identifiers
  • scopus:25144445324
  • pmid:16151897
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}},
}