Optimal Result: 0 - 0 mmol/mol creatinine.

Succinylacetone (SA) is used for the diagnosis and monitoring of patients with tyrosinemia type I (Tyr I). Succinylacetone is exclusively elevated in blood and urine of patients with tyrosinemia type I . As urinary Succinylacetone concentration is much higher than blood, Succinylacetone is usually tested in urine samples.

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 is a specific marker for HT-1 but not consistently measured by newborn screening programs. 


De Jesus VR, Adam BW, Mandel D, Cuthbert CD, Matern D. Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. Mol Genet Metab. 2014 Sep-Oct;113(1-2):67-75. doi: 10.1016/j.ymgme.2014.07.010. Epub 2014 Jul 17. PMID: 25066104; PMCID: PMC4533100.

Chen H, Yu C. Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS). Methods Mol Biol. 2016;1378:281-90. doi: 10.1007/978-1-4939-3182-8_30. PMID: 26602140.

What does it mean if your Succinylacetone result is too high?

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

Tyrosinemia type 1, also known as fumarylacetoacetate hydrolase (FAH) deficiency or hepatorenal tyrosinemia, is a rare but severe genetic disorder. Urine organic acid and plasma amino acid measurements are the recommended initial tests for the evaluation of suspected tyrosinemia type 1. Urine succinylacetone measurement is useful in diagnosis and may be ordered concurrently with organic acids. Urine succinylacetone measurements may also be useful to monitor tyrosinemia treatment.

Tyrosinemia type 1 is caused by a mutation in the FAH gene and exhibits autosomal recessive inheritance. The FAH gene encodes FAH, an enzyme involved in the metabolic pathway of phenylalanine and tyrosine. Tyrosinemia type 1 generally presents in early infancy. If untreated, symptoms include renal tubular dysfunction with hypophosphatemic rickets, poor feeding, vomiting, hepatosplenomegaly, and porphyria-like neurological crisis. Late onset symptoms include growth retardation, bruising, hepatomegaly, cirrhosis, and increased risk for hepatocellular carcinoma. FAH deficiency results in a buildup of tyrosine (can be normal on newborn screen), fumarylacetoacetate, maleylacetoacetate, and succinylacetone (the pathognomonic finding for tyrosinemia type 1). Succinylacetone is also mildly elevated in maleylacetoacetate isomerase deficiency, which is characterized by a milder phenotype.

10 000+ happy customers
100% satisfaction
★ ★ ★ ★ ★ customer support

Understand blood, stool, and urine medical results from all your laboratories.

Upload Your Personal Results

Upload Personal Results

For professional account plans go here

for professional account plans go here

Monthly plan

Annual plan

Own it for life

  • Subscription
  • Data entry service included

    Data entry service

    Our exclusive data entry service is a convenient way to get your results into your private dashboard. Simply attach an image or a file of your lab test results, and one of our qualified data entry team members will add the results for you. We support all sorts of files, whether PDFs, JPGs, or Excel. This service is excellent whether you have a lot of reports to upload or are too busy to do the data entry yourself.

  • Instant interpretation
  • Use free data entry form

    Free data entry form

    We strive to make the data entry process easy for you. Whether by offering dozens of templates to choose from that pre-populate the most popular laboratory panels or by giving you instant feedback on the entered values. Our data entry forms are an easy, fast, and convenient way to enter the reports yourself. There is no limit on how many lab reports you can upload.

  • 4000+ biomarkers explained
  • Nutrition recommendations
  • Cancel anytime


$15 /month

billed every month

  • monthly
  • $15 per report
  • ✓ Instant interpretations
  • ✓ 4000+ biomarkers explained
  • ✓ Nutrition recommendations
  • ✓ Free data entry form
  • ✓ Unlimited data
  • ✓ $15 data entry service
  • ✓ Cancel anytime

Most popular

Data entry included


$79 /year

$6.60/month billed annually

  • yearly
  • 5 reports free
  • ✓ Instant interpretations
  • ✓ 4000+ biomarkers explained
  • ✓ Nutrition recommendations
  • ✓ We enter 5 reports for you
  • ✓ Yearly subscription
  • ✓ Cancel anytime

Data entry included


$250 /once

own it for life

  • pay once
  • 10 reports free
  • ✓ Instant interpretations
  • ✓ 4000+ biomarkers explained
  • ✓ Nutrition recommendations
  • ✓ We enter 10 reports for you
  • ✓ No subscription
  • ✓ Dedicated support
  • ✓ Unlimited access

Are You a Health Professional?

Get started with our professional plan

Welcome to Healthmatters Pro.

Save time on interpreting lab results with the largest database of biomarkers online. In-depth research on any test at your fingertips, all stored and tracked in one place. Learn more

Pro Monthly Plus

for health professionals

  • ✓ Track multiple clients results
  • ✓ No setup fees
  • ✓ No hidden costs
  • ✓ Instant interpretations
  • ✓ 4000+ biomarkers explained
  • ✓ Includes data entry service
  • ✓ Personal training and support
  • ✓ Cancel anytime

$75 per month

Use promo code to save 10% off any plan.

We implement proven measures to keep your data safe.

At HealthMatters, we're committed to maintaining the security and confidentiality of your personal information. We've put industry-leading security standards in place to help protect against the loss, misuse, or alteration of the information under our control. We use procedural, physical, and electronic security methods designed to prevent unauthorized people from getting access to this information. Our internal code of conduct adds additional privacy protection. All data is backed up multiple times a day and encrypted using SSL certificates. See our Privacy Policy for more details.