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PMID: 16151897 Published · ppublish English Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Journal of inherited metabolic disease ·Vol. 28 ·No. 5 ·2005-00-00 ·Pages 673-9

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT

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.

MeSH Terms
Amino Acid Metabolism, Inborn Errors/diagnosis Ammonia/blood Arginine/blood Citrulline/blood Diagnosis, Differential Female Fibroblasts/metabolism Glutamine/blood Humans Hyperammonemia/blood,diagnosis Infant, Newborn Male Mutation Neonatal Screening Ornithine/blood Ornithine-Oxo-Acid Transaminase/deficiency Orotic Acid/blood
Chemicals
Glutamine Citrulline Orotic Acid Ammonia Arginine Ornithine Ornithine-Oxo-Acid Transaminase
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Cleary M A
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester, UK.
Dorland L
de Koning T J
Poll-The B T
Duran M
Mandell R
Shih V E
Berger R
Olpin S E
Besley G T N
References (7)
7 references, click to expand
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Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1007/s10545-005-0074-1
Published
2005-00-00
Pages
673-9
Language
English
Region
United States
NLM ID
7910918
Subset
IM
Grants
NINDS NIH HHS · NS05096 · United States
External Links
PubMed source DOI: 10.1007/s10545-005-0074-1 View journal details
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