An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.
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.
Burlina
A B
AB
Metabolic Unit, Department of Pediatrics, Azienda Ospedale, Università di Padova, Via Giustiniani 3, 35128, Padua, Italy. burlina@pediatria.unipd.it
Peduto
A
A
Di Palma
A
A
Bellizzi
A
A
Sperlì
D
D
Morrone
A
A
Burlina
A P
AP
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D000596:Amino Acids / Q000097:blood; D002675:Child, Preschool; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood / Q000175:diagnosis*; D009963:Orotic Acid / Q000652:urine
D000596:Amino Acids; D009963:Orotic Acid