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Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
Author(s) -
Cleary M. A.,
Dorland L.,
Koning T. J.,
PollThe B. T.,
Duran M.,
Mandell R.,
Shih V. E.,
Berger R.,
Olpin S. E.,
Besley G. T. N.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0074-1
Subject(s) - presentation (obstetrics) , medicine , differential diagnosis , enzyme deficiency , pediatrics , ornithine aminotransferase , endocrinology , pathology , enzyme , ornithine , biology , biochemistry , surgery , arginine , amino acid
Summary 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.