Succinyl Acetone Blood Test

This test measures the level of succinyl acetone in your blood.

• To diagnose HT-1 (hepatorenal tyrosinemia type I), a rare genetic disorder that prevents the body from breaking down tyrosine properly
• To monitor the HT-1 disorder

Your doctor may recommend this test if

• you or your child have symptoms suggestive of HT-1, such as vomiting, diarrhoea, jaundice, abdominal pain, or failure to thrive,
• you or your child have a family history of HT-1, or
• your child has an abnormal newborn screening test for metabolic disorders.

Elevated levels of succinyl acetone may indicate the presence of HT-1.

During the test, a healthcare professional will take a sample of your blood using a needle and send it for testing.

• You may be asked to fast for at least 2 hours before the test.
• Your doctor may ask you to stop taking certain medications or supplements that can interfere with your test results.
• Inform your doctor if you have received blood transfusions recently.
• Inform your doctor if you have any specific requirements.

• Liver function tests: These tests measure various enzymes and proteins produced by the liver to help assess its overall health.
• Plasma amino acid analysis: This test measures the levels of various amino acids in the blood to help diagnose metabolic disorders.
• Genetic testing: This test can identify genetic mutations associated with HT-1.

Blood succinylacetone test or blood SA test

Tyrosinemia type I is a rare genetic disorder characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), leading to the accumulation of toxic metabolites, including succinylacetone. It primarily affects the liver and can cause liver dysfunction, kidney problems, and neurological symptoms. Early diagnosis through newborn screening is crucial, and treatment involves a low-protein diet, medication, and potentially liver transplantation.