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Tyrosinemia Type I - Succinylacetone Screening

Succinylacetone and succinylacetoacetate are responsible for the observed liver and kidney toxicity in patients with tyrosinemia type 1, rare pediatric disease causing progressive liver failure and liver cancer in young children. Tyrosinemia type I occurs due to a deficiency in fumarylacetoacetase (FAH), the final enzyme in the tyrosine catabolic pathway. In patients with tyrosinemia type I, catabolic intermediates maleylacetoacetate and fumarylacetoacetate are converted to the toxic metabolites succinylacetone and succinylacetoacetate. Succinylacetone can also inhibit the porphyrin synthesis pathway leading to the accumulation of 5-aminolevulinate, a neurotoxin responsible for the porphyric crises characteristic of tyrosinemia type I

Test Name: Succinylacetone Screening, Urine
Test Code:
SUAC
Test Description:
This is a semi-quantitative assay for succinylacetone as part of urine organic acids.
Synonyms:
urine organic acids
Indication:
This test is for symptomatic patients suspected of having tyrosinemia type I.
Related Tests: Organic Acid Analysis, Urine  
This test is for confirmation of newborn screening results, evaluating patients with episodes of lethary or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.

Amino Acids, Quantitative  
This test is for confirmation of newborn screening results, evaluating patients with episodes of lethary or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.

Tyrosinemia Type I (6 mutations)  
This test is used to provide additional information regarding diagnosed patients, provide carrier testing for at-risk family members or general population carrier testing.

NTBC (Orfadin) Level  
Quantitative assay of blood nitisinone levels. It is for monitoring therapeutic drug levels in patients being treated with Orfadin.

Succinylacetone Quantitation, Urine  
This stable isotope assay is used for monitoring known patients with tyrosinemia type I

Clinical Links: Tyrosinemia Type I Gene Review
University of Washington Tyrosinemia Homepage
Availability:
Run twice weekly
Turnaround Time:
5 days
Methodology:
GCMS
Reference Range:
Age-specific reference ranges included in report
Requisition:
Consent Form:
Sample Requirements: Type
Urine: 5-10ml random urine

Processing
Freeze

Shipping
Ship frozen overnight.
Samples Received:
Mon - Fri 8:00am - 5:00pm
Special Considerations:
Cost:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions