An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
2006
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.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
6
References
8
Citations
NaN
KQI