2-Methylacetoacetic acid is a metabolite that has an increased excretion in patients with acetoacetyl-CoA thiolase deficiency. Thiolases are ubiquitous and important enzymes. Several isoenzymes are known, which can occur in the cytosol, the mitochondria, or the peroxisomes. Thiolases are CoA-dependent enzymes which catalyze the formation of a carbon-carbon bond in a Claisen condensation step and its reverse reaction via a thiolytic degradation mechanism.
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects the catabolism of isoleucine and ketone bodies. This disorder is characterized by intermittent ketoacidotic episodes.
Mitochondrial acetoacetyl-coenzyme A (CoA) thiolase (T2) is important in the pathways for the synthesis and degradation of ketone bodies as well as for the degradation of 2-methylacetoacetyl-CoA.
Moreover, 2-methylacetoacetic acid is found to be associated with beta-ketothiolase deficiency, which is also an inborn error of metabolism. 2-Methylacetoacetic acid is found in urine and can be used as a biomarker for the diagnosis of beta-ketothiolase deficiency.
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid ) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.
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2-Methylacetoacetic acid is a metabolite that has an increased excretion in patients with acetoacetyl-CoA thiolase deficiency.
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects the catabolism of isoleucine and ketone bodies. This disorder is characterized by intermittent ketoacidotic episodes.
Moreover, 2-methylacetoacetic acid is found to be associated with beta-ketothiolase deficiency, which is also an inborn error of metabolism. 2-Methylacetoacetic acid is found in urine and can be used as a biomarker for the diagnosis of beta-ketothiolase deficiency.
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid ) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.
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2-Decenedioic Acid, 2-ET-3-OH-Propionic, 2-Hydroxyadipic, 2-Hydroxybutyric, 2-Hydroxyglutaric, 2-Hydroxyisocaproic, 2-Hydroxyisovaleric, 2-Methyl, 3-Hydroxybutyric, 2-Methylacetoacetic, 2-Methylbutrylglycine, 2-Methylglutaconic Acid, 2-Octenedioic acid, 2-Octenoic Acid, 2-OH-3ME-Valeric, 2-Oxo-3-methylvaleric, 2-OXO-Butyric Acid, 2-OXOADIPIC, 2-Oxoglutaric, 2-Oxoisocaproic, 2-Oxoisovaleric, 2OH-Phenylacetic Acid, 3-Hydroxyadipic, 3-Hydroxybutyric, 3-Hydroxyglutaric, 3-Hydroxyisobutyric, 3-Hydroxyisovaleric, 3-Hydroxypropionic, 3-Hydroxysebacic, 3-Hydroxyvaleric, 3-Methylcrotonylglycine, 3-Methylglutaconic, 3-Methylglutaric, 3-OH-3-Methylglutaric, 30H-ISOVALERIC ACID, 3OH-2-Methylvaleric Acid, 3OH-Dodecanedioic Acid, 3OH-Dodecanoic Acid, 4 HYDROXYCYCLOHEX- ANEACETIC, 4-Hydroxphenyllactic, 4-Hydroxybutyric, 4-Hydroxyphenylacetic, 4-Hydroxyphenylpyruvic, 4OH-Phenylpropionic Acid, 5-HIAA, 5-Oxoproline, 5OH-Hexanoic Acid, Acetoacetic, Aconitic, Ur, Adipic, Butyrylglycine, Citric, Crotonylglycine, Decadienedioic, Dodecanedioic, Ethylmalonic, Fumaric, Glutaconic, Glutaric, Glyceric Acid, Hexanoylglycine, Homogentisic, HOMOVANILLIC ACID, Isobutyrylglycine, Isocitric, Isovaleryglycine, Lactic, Lactic Acid, Malic, Malonic, Methylcitric, Methylmalonic, Methylsuccinic, Mevalonolactone, N ACETYLASPARTIC, N-AcetylTyrosine, N-Valerylglycine, Octanoic, Orotic, Phenylacetic, Phenyllactic, Phenylpropionylglycine, Phenylpyruvic, Propionylglycine, Pyruvic, Sebacic, Suberic, Suberylglycine, Succinic, Succinylacetone, Thymine, Tiglylglycine, Trans-Cinnamoylglycine, Uracil, VMA
