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

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.

DL-glyceric acid is a compound that is excessively secreted in the urine of patients with D-glyceric aciduria.

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.

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.

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