| Autor: |
Galloway, P. J., MacPhee, G. B., Galea, P., Robinson, P. H. |
| Předmět: |
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| Zdroj: |
Annals of Clinical Biochemistry; Sep2000, Vol. 37 Issue 5, p727-728, 2p |
| Abstrakt: |
The article reports on the case of a 13-year-old boy with ornithine carbamyltransferase deficiency. The patient was presented with nausea, vomiting and anorexia. Rapid biochemical assessment of qualitative urine and plasma amino acids, urine organic acids and orotic acids revealed hyperammonemia. A liver biopsy was obtained and enzyme analysis was performed. The boy died from low cardiac output with bradyarrhythmia despite maximum inotropic support. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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