aciduria

3-Methylglutaric acid 是亮氨酸代谢物，是一种与两种亮氨酸途径 HMGCL、AUH 酶缺陷显著相关的 C6 二元羧酸有机酸。

DL-Glyceric Acid是一种内源性代谢物，能够作为Pseudomonas aeruginosa的3-hydroxyisobutyrate dehydrogenase(PA0743)的底物而被催化(Km=19.8 mM)。

5'-Guanylic acid (5'-guanosine monophosphate) 与几种代谢紊乱有关，包括腺苷脱氨酶缺乏症、 aica-核糖体途径、腺嘌呤磷酸转移酶缺乏症 (aprt) 以及 2-羟基葡糖酸盐途径。

trans-Aconitic acid 是反式丙酮酸2-甲基转移酶的底物，存在于正常人尿液中，大量存在于 Reye 综合征和有机酸尿症。

L-Dihydroorotic acid 是一种能够通过二氢乳清酶，能够逆水解产生的无环 L-脲基琥珀酸。

5'-Guanylic acid disodium salt (GMP-5) 由鸟嘌呤，核糖和磷酸组成，是信使 RNA 中的一种核苷酸单体。 鸟苷衍生物参与细胞内信号转导，并已鉴定存在于端粒，核糖体 DNA，免疫球蛋白重链转换区和原癌基因的控制区中的重复基因组序列中。

3-Methyl-2-oxobutanoic acid (2-Oxoisovaleric acid) 是大肠杆菌中泛酸的前体。它是由支链氨基酸的不完全分解产生的一种异常代谢物。

Trans-​2-​butene-​1,​4-​dicarboxylic acid (3-Hexenedioic Acid) 是内源性代谢产物的一种。

3-Methylbut-2-enoic acid (Senecioic acid) 是内源性代谢产物的一种。

2-Hydroxy-2-methylbutanoic acid 是非正常的代谢物，与羟基戊二酸尿症以及枫糖尿病有关。

Glutarylcarnitine (O-glutaroyl-L-carnitine) 是大多数串联质谱新生儿筛查计划中监测的丙二酸尿症和谷草酸尿症 I 型的诊断代谢物。

(R)-3-Hydroxyisobutyric acid 是一种手性有机化合物，来源于氨基酸 L-缬氨酸及胸腺嘧啶的代谢产物。作为β-羟基酸，(R)-3-Hydroxyisobutyric acid 在 L-缬氨酸和胸腺嘧啶的代谢途径中发挥关键中间体作用。升高的 (R)-3-Hydroxyisobutyric acid（3-HIBA）水平可作为严重遗传代谢疾病的诊断性生物标志物，包括 3-羟基异丁酸尿症。

D-α-Hydroxyglutaric acid-d5disodium (Disodium (R)-2-hydroxyglutarate-d5) 是 D-α-Hydroxyglutaric acid disodium 的氘代物。D-α-Hydroxyglutaric acid disodium (Disodium (R)-2-hydroxyglutarate) 是神经代谢疾病 D-2-羟基戊二酸尿症中主要积累的代谢物。它是 α-酮戊二酸 (α-KG) 的弱竞争性拮抗剂，对多种 α-KG 依赖性双加氧酶 (dioxygenases) 具有抑制作用，Ki 为 10.87 mM。此外，D-α-Hydroxyglutaric acid disodium 能提高活性氧 (ROS) 的产生，并结合抑制 ATP 合酶，同时抑制 mTOR 信号传导。

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 is a urinary metabolite predominantly found in individuals with the rare inherited metabolic disorder, L-glyceric aciduria. This compound serves as a diagnostic tool for identifying primary hyperoxaluria type 2 (PH2) and can be used to differentiate between PH1 and PH2 based on its excretion pattern.

Glutarylcarnitine lithium 丙二酸尿症和 I 型戊二酸尿症的重要诊断代谢物。

3-Methylglutaconic acid 是MGTA (3-甲基戊二酸尿症) 的主要积累代谢物，能够诱发脂质和蛋白质的氧化损伤，减弱大脑皮层上清液的非酶促抗氧化防御，导致氧化应激。此化合物适用于研究大脑损伤相关疾病。

Glutarylcarnitine-d9(chloride) 是 Glutarylcarnitine chloride 的氘代变体。Glutarylcarnitine chloride 是诊断丙二酸尿症和 I 型戊二酸尿症的关键代谢标志物。

Propionicacid-d5 是 Propionicacid 的氘代化合物。Propionicacid 的 CAS 号为 79-09-4。Propionic acid 被广泛用作食品中的抗真菌剂。它以低水平天然存在于乳制品中，并与其他短链脂肪酸 (SCFA) 一起普遍存在于人类和其他哺乳动物的胃肠道中，作为微生物消化碳水化合物的最终产物。在动物体内有显着的生理活性。

Propionic-2,2-d2 acid 是 Propionic acid 的氘代化合物。Propionic acid 的 CAS 号为 79-09-4。Propionic acid 被广泛用作食品中的抗真菌剂。它以低水平天然存在于乳制品中，并与其他短链脂肪酸 (SCFA) 一起普遍存在于人类和其他哺乳动物的胃肠道中，作为微生物消化碳水化合物的最终产物。在动物体内有显着的生理活性。

Malonylcarnitine (Standard)（丙二酰-L-肉碱标准品)是一种重要的脂肪酸代谢物与酰基肉碱，常用于串联质谱法筛查丙二酸尿症和戊二酸尿症I型，广泛用于新生儿筛查。作为标准品，可用于定量检测，疾病诊断和代谢通路研究。

5'-Guanylic acid (Standard) 是 5'-Guanylic acid 的标准品，适用于定量分析、质量控制及生化实验等相关研究。5'-Guanylic acid (5'-guanosine monophosphate) 与几种代谢紊乱有关，包括腺苷脱氨酶缺乏症、 aica-核糖体途径、腺嘌呤磷酸转移酶缺乏症 (aprt) 以及 2-羟基葡糖酸盐途径。

5'-Guanylic acid disodium salt (Standard) 是 5'-Guanylic acid disodium salt 的标准品，适用于定量分析、质量控制及生化实验等相关研究。5'-Guanylic acid disodium salt (GMP-5) 由鸟嘌呤，核糖和磷酸组成，是信使 RNA 中的一种核苷酸单体。 鸟苷衍生物参与细胞内信号转导，并已鉴定存在于端粒，核糖体 DNA，免疫球蛋白重链转换区和原癌基因的控制区中的重复基因组序列中。