An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

Title

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

Creator

Burlina AB; Peduto A; Di Palma A; Bellizzi A; Sperli D; Morrone A; Burlina AP

Publisher

Journal Of Inherited Metabolic Disease

Date

2006

Subject

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

Description

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

Rights

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).

Type

Journal Article

Citation List Month

Backlog

Pages

179-181

Issue

1

Volume

29

Citation

Burlina AB; Peduto A; Di Palma A; Bellizzi A; Sperli D; Morrone A; Burlina AP, “An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient,” Pediatric Palliative Care Library, accessed October 16, 2021, https://pedpalascnetlibrary.omeka.net/items/show/13777.

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