Related Gene(s): FAH
Quantitative urinary succinylacetone analysis is used in diagnosing and monitoring patients with tyrosinemia type I. This work up should also include plasma amino acid analysis and urine organic acids analysis. Succinylacetone analysis is performed by gas chromatography and mass spectrometry (GC/MS) method.
- Urine: 5-10 mL (random or preferably morning first void) in a clean container without preservatives; freeze. Minimum of 2 mL is required
- Ship overnight frozen on dry ice
- 5 days