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.

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.

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.

D-Glyceric acid calcium hydrate is an endogenous metabolite found in urine, useful for studying primary hyperoxaluria type I and glutaric aciduria type 2.