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An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Author(s) -
Burlina A. B.,
Peduto A.,
Palma A. Di,
Bellizzi A.,
Sperlì D.,
Morrone A.,
Burlina A. P.
Publication year - 2006
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/s10545-006-0193-3
Subject(s) - ornithine transcarbamylase deficiency , ornithine transcarbamylase , glutamine , vomiting , medicine , urine , hyperammonemia , ornithine carbamoyltransferase , ornithine , urinary system , endocrinology , presentation (obstetrics) , gastroenterology , pediatrics , urea cycle , biochemistry , biology , surgery , arginine , amino acid
Summary We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.