2-Methyl-3-hydroxybutyric acid, which is also known as 3-Hydroxy-2-methyl-butanoic acid (HMBA) is a normal urinary metabolite involved in the isoleucine catabolism, as well as presumably beta-oxidation of fatty acids and ketogenesis, excreted in abnormally high amounts in 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-Methyl-3-hydroxybutyric acid, which is also known as 3-Hydroxy-2-methyl-butanoic acid (HMBA) is a normal urinary metabolite involved in the isoleucine catabolism, as well as presumably beta-oxidation of fatty acids and ketogenesis, excreted in abnormally high amounts in 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
