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Test ID SUAC Succinylacetone, Blood Spot

Reporting Name

Succinylacetone, BS

Useful For

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine

 

Diagnosis of HT-1 when used in conjunction with testing for urine organic acids (OAU), liver function tests, alpha-fetoprotein, and molecular genetic analysis of FAH

Specimen Type

Whole blood


Necessary Information


Patient's age is required.



Specimen Required


Submit only 1 of the following specimen types:

 

Preferred:

Specimen Type: Blood Spot

Supplies: Card - Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood Spot Collection Card

Acceptable: Whatman Protein Saver 903 Paper, Ahlstrom 226 filter paper, Munktell filter paper, or blood collected in tube containing heparin, ACD or EDTA and dried on filter paper.

Specimen Volume: 2 blood spots

Collection Instructions:

1. At least 1 spot should be complete, ie, unpunched.

2. Do not expose specimen to heat or direct sunlight.

3. Do not stack wet specimens.

4. Keep specimen dry.

5. If collection of a new specimen is necessary, let blood dry on the Blood Spot Collection Card (T493) at ambient temperature in a horizontal position for 3 hours.

Specimen Stability Information: Ambient (preferred) 90 days/Refrigerated 90 days/Frozen 90 days

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.

 

Acceptable

Specimen Type: Whole Blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium or lithium heparin) and yellow top (ACD)

Specimen Volume: 2 mL

Collection Instructions: Send specimen in original tube.

Specimen Stability Information: Refrigerate (preferred) 4 days/Ambient 4 days


Specimen Minimum Volume

Blood Spot: 1
Whole Blood: 0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Varies

Reference Values

SUCCINYLACETONE

<1.00 nmol/mL

 

TYROSINE

<4 weeks: 40.0-280.0 nmol/mL

≥4 weeks: 25.0-150.0 nmol/mL

Day(s) and Time(s) Performed

Monday through Friday; 9 a.m.

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

84510

82542

82542 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SUAC Succinylacetone, BS 53231-7

 

Result ID Test Result Name Result LOINC Value
22714 Interpretation 59462-2
607629 Succinylacetone 53231-7
607630 Tyrosine 35571-9
22716 Reviewed By 18771-6

Clinical Information

Tyrosinemia type 1 (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). HT-1 primarily affects the liver, kidneys, and peripheral nerves causing severe liver disease, renal tubular dysfunction, and neurologic crises. If left untreated, most patients die of liver failure in the first years of life, and all are at risk of developing hepatocellular carcinoma. Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3 cyclohexanedione (NTBC) is available and is particularly effective when initiated in newborns. The incidence of HT-1 is approximately 1 in 100,000 live births.

 

While tyrosine can be determined by routine newborn screening, it is not a specific marker for tyrosinemia type I and often may be associated with common and benign transient tyrosinemia of the newborn. Succinylacetone (SUAC) is a specific marker for HT-1, but not consistently measured by newborn screening programs. This assay determines succinylacetone and tyrosine in newborn blood spots by tandem mass spectrometry. Additional follow-up testing may include confirmatory molecular analysis of the FAH gene.

Interpretation

Elevations of succinylacetone (SUAC) above the reference range with or without elevations of tyrosine (TYR) are indicative of tyrosinemia type 1.

 

Elevations of TYR above the reference range without elevations of SUAC may be suggestive of tyrosinemia type II, type III, transient hypertyrosinemia of the neonate, or nonspecific liver disease.

Clinical Reference

1. Larochelle J, Alvarez F, Bussieres JF, et al: Effects of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 2012;107(1-2):49-54

2. Sniderman King L, Trahms C, Scott CR: Tyrosinemia Type I. In GeneReviews. Edited by MP Adam, HH Ardinger, PA Pagon et al. University of Washington, Seattle. Updated 2017 May 25.

Accessed July 1, 2019. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1515/

3. De Jesus VR, Adam BW, Mandel D, et al: Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. Mol Genet Metab 2014;113(1-2)67-75

4. Blackburn PR, Hickey RD, Nace RA, et al: Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. Hum Mutat. 2016;37(10):1097-1105. doi:10.1002/humu.23047

Analytic Time

3 days

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Mayo Clinic Laboratories | Pediatric Catalog Additional Information:

mcl-newborn