Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

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

doi:10.1007/s10545-005-0074-1

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	673-679
Number of pages	7
Journal	Journal of Inherited Metabolic Disease
Volume	28
Issue number	5
DOIs	https://doi.org/10.1007/s10545-005-0074-1
Publication status	Published - 2005 Jan 1
Externally published	Yes

Access to Document

10.1007/s10545-005-0074-1

Cite this

@article{cde534727c2a490d98a511205eb15257,

title = "Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation",

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.",

author = "Cleary, {M. A.} and L. Dorland and {de Koning}, {T. J.} and Poll-The, {B. T.} and M. Duran and R. Mandell and Shih, {V. E.} and R. Berger and Olpin, {S. E.} and Besley, {Guy T.N.}",

year = "2005",

month = jan,

day = "1",

doi = "10.1007/s10545-005-0074-1",

language = "English",

volume = "28",

pages = "673--679",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer",

number = "5",

}

TY - JOUR

T1 - Ornithine aminotransferase deficiency

T2 - Diagnostic difficulties in neonatal presentation

AU - Cleary, M. A.

AU - Dorland, L.

AU - de Koning, T. J.

AU - Poll-The, B. T.

AU - Duran, M.

AU - Mandell, R.

AU - Shih, V. E.

AU - Berger, R.

AU - Olpin, S. E.

AU - Besley, Guy T.N.

PY - 2005/1/1

Y1 - 2005/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=25144445324&partnerID=8YFLogxK

U2 - 10.1007/s10545-005-0074-1

DO - 10.1007/s10545-005-0074-1

M3 - Article

C2 - 16151897

AN - SCOPUS:25144445324

SN - 0141-8955

VL - 28

SP - 673

EP - 679

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 5

ER -

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

Abstract

Access to Document

Other files and links

Fingerprint

Cite this