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.
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.
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