aciduria

Methylglutaric acid is a leucine metabolite. A large amount of methylglutaric acid is identified in urine of patients with deficiency of 3-methylglutaconyl coenzyme A hydratase (PMID 6181239 ). Methylglutaric acid is also found to be associated with 3-hyd

DL-Glyceric Acid is an endogenous metabolite that serves as a substrate for Pseudomonas aeruginosa's 3-hydroxyisobutyrate dehydrogenase (PA0743), catalyzing the reaction (Km = 19.8 mM).

5'-Guanylic acid (5'-guanosine monophosphate) is implicated in several metabolic disorders, including the AICA-ribosiduria pathway, adenosine deaminase deficiency, adenine phosphoribosyltransferase deficiency (APRT), and the 2-hydroxyglutric aciduria pathway.

Trans-Aconitic acid is normally present in normal human urine, and it has been suggested that is present in larger amounts with Reye's syndrome and organic aciduria. trans-Aconitic acid is a substrate of enzyme trans-aconitate 2-methyltransferase (EC 2.1.

L-Dihydroorotic acid, also known as (S)-4,5-dihydroorotate or dihydro-L-orotate, belongs to the class of organic compounds known as alpha amino acids and derivatives. Within the cell, L-dihydroorotic acid is primarily located in the cytoplasm and mitochon

5'-Guanylic acid disodium salt (GMP-5) is a purine ribonucleoside monophosphate. L-Glutamic acid and guanosine monophosphate are biosynthesized from xanthylic acid and L-glutamine via GMP synthase [glutamine-hydrolyzing]. Guanosine triphosphate and guanosine monophosphate are biosynthesized from diguanosine tetraphosphate via bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]. In humans, guanosine monophosphate is involved in the kanamycin, telithromycin, tobramycin, and erythromycin action pathways, and several metabolic disorders including AICA-ribosiduria, adenosine deaminase deficiency, adenine phosphoribosyltransferase deficiency (aprt), and 2-hydroxyglutric aciduria (D and L form) pathways. Guanosine monophosphate is also found in foods like onion-family vegetables, millet, Chinese water chestnut, and red rice, serving as a potential biomarker for the consumption of these foods.

3-Methyl-2-oxobutanoic acid (2-Oxoisovaleric acid) is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids. 3-Methyl-2-oxobutanoic acid is a neurotoxin, an acidogen, and a metabotoxin. A neurotoxin causes damage to nerve cells and nerve tissues. 3-Methyl-2-oxobutanoic acid is a keto-acid, which is a subclass of organic acids. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis.

Trans-2-butene-1,4-dicarboxylic acid (3-Hexenedioic Acid) is a normal human unsaturated dicarboxylic acid metabolite with increased excretion in patients with Dicarboxylic aciduria caused by fatty acid metabolism disorders The urinary excretion of Trans-2-butene-1,4-dicarboxylic acid is increased in conditions of augmented mobilization of fatty acids or inhibited fatty acid oxidation.

3-Methylbut-2-enoic acid (Senecioic acid) appears in the urine of patients with 3-Methylcrotonic aciduria, which is a disorder characterized by urine that contains increased amounts of 3-methylcrotonic acid.

2-Hydroxy-2-methylbutyric acid is an unusual metabolite found in the urine of patients with 2-hydroxyglutaric aciduria and maple syrup urine disease.

Glutarylcarnitine (O-glutaroyl-L-carnitine) is a diagnostic metabolite for malonic aciduria and glutaric aciduria type I monitored in most tandem mass spectrometry newborn screening programmes.

(R)-3-Hydroxyisobutyric acid is a chiral organic compound and a metabolite derived from the amino acid L-valine and thymine catabolism. (R)-3-Hydroxyisobutyric acid is classified as a beta hydroxy acid and functions as a key intermediate in metabolic pathways involving L-valine and thymine. Elevated levels of (R)-3-Hydroxyisobutyric acid, also known as 3-HIBA, may serve as a diagnostic biomarker for severe inherited metabolic disorders, including 3-hydroxyisobutyric aciduria.

D-α-Hydroxyglutaric acid-d5 disodium (Disodium (R)-2-hydroxyglutarate-d5) is the deuterated version of D-α-Hydroxyglutaric acid disodium. This compound is a major metabolite that accumulates in the neurometabolic disorder D-2-hydroxyglutaric aciduria. As a weak competitive antagonist of α-ketoglutaric acid (α-KG), D-α-Hydroxyglutaric acid disodium inhibits various α-KG-dependent dioxygenases with a Ki of 10.87 mM. It also promotes the production of reactive oxygen species (ROS), binds to and inhibits ATP synthase, and suppresses mTOR signaling.

Octanoic acid-13C is intended for use as an internal standard for the quantification of octanoic acid by GC- or LC-MS. Octanoic acid is a medium-chain saturated fatty acid. It has been found in Teleme cheeses made from goat, ovine, or bovine milk.1 Octanoic acid is active against the bacteria S. mutans, S. gordonii, F. nucleatum, and P. gingivalis (IC80s = <125, <125, 1,403, and 2,294 μM, respectively).2 Levels of octanoic acid are increased in the plasma of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, an inborn error of fatty acid metabolism characterized by hypoketotic hypoglycemia, medium-chain dicarboxylic aciduria, and intolerance to fasting.3,4 |1. Mallatou, H., Pappa, E., and Massouras, T. Changes in free fatty acids during ripening of Teleme cheese made with ewes', goats', cows' or a mixture of ewes' and goats' milk. Int. Dairy J. 13(1-3), 211-219 (2003).|2. Hyang, C.B., Alimova, Y., Myers, T.M., et al. Short- and medium-chain fatty acids exhibit antimicrobial activity for oral microorganisms. Arch. Oral Biol. 56(7), 650-654 (2011).|3. Onkenhout, W., Venizelos, V., van der Poel, P.F.H., et al. Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin. Chem. 41(10), 1467-1474 (1995).|4. Rinaldo, P., O'Shea, J.J., Coates, P.M., et al. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N. Engl. J. Med. 319(20), 1308-1313 (1988).

Nitisinone-13C6is intended for use as an internal standard for the quantification of nitisinone by GC- or LC-MS. Nitisinone is an inhibitor of 4-hydroxyphenylpyruvate dioxygenase (HPPD), which converts 4-hydroxyphenylpyruvate (HPPA) to homogentisate in the tyrosine catabolic pathway.1Nitisinone increases urinary levels of HPPA and 4-hydroxyphenyllactate (HPLA) in rats when administered at a dose of 10 mg/kg. Nitisinone (3 mg/kg) prevents the neonatal lethality of fumarylacetoacetate hydrolase (FAH) deficiency in mice when administered to pregnant dams.2It exhibits hepatoprotective effects inFAH-/-mice, such as prevention of increases in plasma levels of aspartate serine aminotransferase (AST) and conjugated bilirubin, when administration is continued following birth at a dose of 1 mg/kg. Nitisinone (100 μg) decreases urinary excretion of homogentisate and increases urinary excretion of HPPA, HPLA, and 4-hydroxyphenylacetate in a mouse model of alkaptonuria induced by ethylnitrosourea.3Formulations containing nitisinone have been used in the treatment of hereditary tyrosinemia type 1 (HT-1). 1.Ellis, M.K., Whitfield, A.C., Gowans, L.A., et al.Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulfonylbenzoyl)-cyclohexane-1,3-dioneToxicol. Appl. Pharmacol.133(1)12-19(1995) 2.Grompe, M., Lindstedt, S., al-Dhalimy, M., et al.Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type INat. Genet.10(4)453-460(1995) 3.Suzuki, Y., Oda, K., Yoshikawa, Y., et al.A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuriaJ. Hum. Genet.44(2)79-84(1999)

L-Glyceric acid sodium, a urinary metabolite, is predominantly found in individuals with the rare inherited metabolic disorder L-glyceric aciduria. This compound is a diagnostic tool for identifying primary hyperoxaluria type 2 (PH2) and distinguishing it from primary hyperoxaluria type 1 (PH1) based on its excretion pattern.

Glutarylcarnitine lithium, a key diagnostic metabolite for malonic aciduria and glutaric aciduria type I, is routinely monitored in the majority of newborn screening programs utilizing tandem mass spectrometry [1].

3-Methylglutaconic acid, a primary metabolite accumulating in 3-Methylglutaconic aciduria (MGTA), induces lipid and protein oxidation, while diminishing non-enzymatic antioxidant defenses in cerebral cortex supernatants, thereby promoting oxidative stress in the cerebral cortex. This compound is utilized in research concerning brain damage diseases [1].

Glutarylcarnitine-d9 (chloride) is the deuterated form of glutarylcarnitine chloride. Glutarylcarnitine chloride serves as a key diagnostic metabolite in both Malonic Aciduria and Glutaric Aciduria Type I.

Propionicacid-d5 is a deuterated compound of Propionicacid. Propionicacid has a CAS number of 79-09-4. Propionic acid (PA) is widely used as an antifungal agent in food. It is present naturally at low levels in dairy products and occurs ubiquitously, together with other short-chain fatty acids (SCFA), in the gastro-intestinal tract of humans and other mammals as an end-product of the microbial digestion of carbohydrates. It has significant physiological activity in animals. PA is irritant but produces no acute systemic effects and has no demonstrable genotoxic potential.Propionic aciduria is one of the most frequent organic acidurias, a disease that comprise many various disorders. The outcome of patients born with Propionic aciduria (genetic disorder) is poor intellectual development patterns, with 60% having an IQ less than 75 and requiring special education. Successful liver and/or renal transplantations, in a few patients, have resulted in better quality of life but have not necessarily prevented neurological and various visceral complications. These results emphasize the need for permanent metabolic follow-up whatever the therapeutic strategy. Decreased early mortality, less severe symptoms at diagnosis, and more favorable short-term neurodevelopmental outcome were recorded in patients identified through expanded newborn screening.

Propionic-2,2-d2 acid is a deuterated compound of Propionic acid. Propionic acid has a CAS number of 79-09-4. Propionic acid (PA) is widely used as an antifungal agent in food. It is present naturally at low levels in dairy products and occurs ubiquitously, together with other short-chain fatty acids (SCFA), in the gastro-intestinal tract of humans and other mammals as an end-product of the microbial digestion of carbohydrates. It has significant physiological activity in animals. PA is irritant but produces no acute systemic effects and has no demonstrable genotoxic potential.Propionic aciduria is one of the most frequent organic acidurias, a disease that comprise many various disorders. The outcome of patients born with Propionic aciduria (genetic disorder) is poor intellectual development patterns, with 60% having an IQ less than 75 and requiring special education. Successful liver and/or renal transplantations, in a few patients, have resulted in better quality of life but have not necessarily prevented neurological and various visceral complications. These results emphasize the need for permanent metabolic follow-up whatever the therapeutic strategy. Decreased early mortality, less severe symptoms at diagnosis, and more favorable short-term neurodevelopmental outcome were recorded in patients identified through expanded newborn screening.

Malonylcarnitine (Standard) is an important metabolite commonly used in tandem mass spectrometry to screen for malonic aciduria and glutaric aciduria type I, widely used in newborn screening. Malonylcarnitine (Standard) can be used for quantitative assays, disease diagnosis and metabolic pathway studies.

5'-Guanylic acid (Standard) is the standard substance of 5'-Guanylic acid, and it is applicable for quantitative analysis, quality control, and related research in biochemical experiments. 5'-Guanylic acid (5'-guanosine monophosphate) is involved in several metabolic disorders, including AICA-ribosiduria pathway, adenosine deaminase deficiency,adenine phosphoribosyltransferase deficiency (aprt), and the 2-hydroxyglutric aciduria pathway.

5'-Guanylic acid disodium salt (Standard) is the standard substance of 5'-Guanylic acid disodium salt, and it is applicable for quantitative analysis, quality control, and related research in biochemical experiments. 5'-Guanylic acid disodium salt (GMP-5) belongs to the class of organic compounds known as purine ribonucleoside monophosphates. In particular, L-Glutamic acid and guanosine monophosphate can be biosynthesized from xanthylic acid and L-glutamine; which is catalyzed by the enzyme GMP synthase [glutamine-hydrolyzing]. In addition, Guanosine triphosphate and guanosine monophosphate can be biosynthesized from diguanosine tetraphosphate; which is catalyzed by the enzyme bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]. In humans, guanosine monophosphate is involved in the kanamycin action pathway, the telithromycin action pathway, the tobramycin action pathway, and the erythromycin action pathway. Guanosine monophosphate is also involved in several metabolic disorders, some of which include the AICA-ribosiduria pathway, adenosine deaminase deficiency, adenine phosphoribosyltransferase deficiency (aprt), and the 2-hydroxyglutric aciduria (D and L form) pathway. Outside of the human body, guanosine monophosphate can be found in a number of food items such as onion-family vegetables, millet, chinese water chestnut, and red rice. This makes guanosine monophosphate a potential biomarker for the consumption of these food products.