Succinylacetone is a

chemical compound A chemical compound is a chemical substance composed of many identical molecules (or molecular entities) containing atoms from more than one chemical element held together by chemical bonds. A molecule consisting of atoms of only one element ...

that is formed by the oxidation of

glycine Glycine (symbol Gly or G; ) is an amino acid that has a single hydrogen atom as its side chain. It is the simplest stable amino acid. Glycine is one of the proteinogenic amino acids. It is encoded by all the codons starting with GG (G ...

and is a precursor of

methylglyoxal Methylglyoxal (MGO) is the organic compound with the formula CH3C(O)CHO. It is a reduced derivative of pyruvic acid. It is a reactive compound that is implicated in the biology of diabetes. Methylglyoxal is produced industrially by degradation ...

. It is a pathognomonic compound found in the urine of patients with

tyrosinemia type 1 Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with the kidneys and peripheral nerves. The inability of cells to Metabolic disorder, process tyrosi ...

, which is due to congenital deficiency of an enzyme,

fumarylacetoacetate hydrolase Fumarylacetoacetase is an enzyme that in humans is encoded by the ''FAH'' gene located on chromosome 15. The enzyme is involved in the catabolism of the amino acid tyrosine in humans. Function Fumarylacetoacetate hydrolase (FAH) is a protein hom ...

. This enzyme is involved in the catabolism of tyrosine, and if deficient, leads to accumulation of fumarylacetoacetate which is subsequently converted to succinylacetone which can be detected in the urine by GCMS. Succinylacetone also inhibits

ALA dehydratase Aminolevulinic acid dehydratase (porphobilinogen synthase, or ALA dehydratase, or aminolevulinate dehydratase) is an enzyme () that in humans is encoded by the ''ALAD'' gene. Porphobilinogen synthase (or ALA dehydratase, or aminolevulinate dehydra ...

(PBG synthase) which increases ALA and precipitates acute neuropathic symptoms, similar to porphyria.

References

{{Reflist Diketones Carboxylic acids