An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Child; Humans; Male; Fatal Outcome; Preschool; Q3 Literature Search; Diagnosis; Differential; Amino Acid Metabolism; Amino Acids/blood; Inborn Errors/diagnosis; Ornithine Carbamoyltransferase Deficiency Disease/blood/diagnosis; Ornithine Carbamoyltransferase/deficiency; Orotic Acid/urine
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.
2006
Burlina AB; Peduto A; Di Palma A; Bellizzi A; Sperli D; Morrone A; Burlina AP
Journal Of Inherited Metabolic Disease
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1007/s10545-006-0193-3" target="_blank" rel="noreferrer">10.1007/s10545-006-0193-3</a>
Psychosocial aspects of chronic illness in adolescents with thalassemia major
Adolescent Transitions; Adolescents; Chronic Illness; thalassemia
1995
Zani B; Di Palma A; Vullo C
Journal Of Adolescence
1995
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1006/jado.1995.1029" target="_blank" rel="noreferrer">10.1006/jado.1995.1029</a>