2-Methyl-3-hydroxybutyric acid (BioDeep_00000027546)

   

human metabolite Endogenous


代谢物信息卡片


2-Methyl-3-hydroxybutyric acid, (R-(r*,s*))-isomer

化学式: C5H10O3 (118.063)
中文名称: 3-羟基-2-甲基丁酸
谱图信息: 最多检出来源 Homo sapiens(urine) 1.64%

分子结构信息

SMILES: CC(C(C)O)C(=O)O
InChI: InChI=1S/C5H10O3/c1-3(4(2)6)5(7)8/h3-4,6H,1-2H3,(H,7,8)

描述信息

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, which is a genetic disorder. Differences in the enantiomeric ratio of HMBA may originate from the enantioselectivity of different enzyme systems (PMID 10755375).
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. Differences in the enantiomeric ratio of HMBA may originate from the enantioselectivity of different enzyme systems (PMID 10755375) [HMDB]

同义名列表

17 个代谢物同义名

2-Methyl-3-hydroxybutyric acid, (R-(r*,s*))-isomer; alpha-Methyl-beta-hydroxybutyric acid; alpha-Methyl-beta-hydroxybutyrate; 3-Hydroxy-2-methyl-butyric acid; 2-Methyl-3-hydroxybutanoic acid; 3-Hydroxy-2-methylbutanoic acid; a-Methyl-b-hydroxybutyric acid; 3-Hydroxy-2-methylbutyric acid; 2-Methyl-3-hydroxybutyric acid; 2-Methyl-3-hydroxybutanoate; 3-Hydroxy-2-methyl-butyrate; 3-Hydroxy-2-methylbutanoate; 2-Methyl-3-hydroxybutyrate; 3-Hydroxy-2-methylbutyrate; a-Methyl-b-hydroxybutyrate; Nilic acid; Nilate



数据库引用编号

7 个数据库交叉引用编号

分类词条

相关代谢途径

Reactome(0)

BioCyc(0)

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代谢反应

0 个相关的代谢反应过程信息。

Reactome(0)

BioCyc(0)

WikiPathways(0)

Plant Reactome(0)

INOH(0)

PlantCyc(0)

COVID-19 Disease Map(0)

PathBank(0)

PharmGKB(0)

1 个相关的物种来源信息

在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：

  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
  • NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。

亚细胞结构定位 关联基因列表


文献列表

  • Léo-Paul Bancel, Nicolas Germain, Anne-Sophie Guemann, Marie Joncquel Chevalier Curt, Anne-Frédérique Dessein. Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis. Clinical chemistry. 2019 11; 65(11):1460-1462. doi: 10.1373/clinchem.2019.306712. [PMID: 31662337]
  • Toshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, Nobuki Kuwayama, Mikiko Morita, Tomohiro Hori, Yuka Aoyama, Rajaram Venkatesan, Rik Wierenga, Yohsuke Moriyama, Takashi Hashimoto, Nobuteru Usuda, Kei Murayama, Akira Ohtake, Yuki Hasegawa, Yosuke Shigematsu, Yukihiro Hasegawa. The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation. Journal of human genetics. 2014 Nov; 59(11):609-14. doi: 10.1038/jhg.2014.79. [PMID: 25231369]
  • Vefik Arica, Secil Gunher Arica, Huseyin Dag, Hatice Onur, Omer Obut, Sayat Gülbayzar. Beta-ketothiolase deficiency brought with lethargy: case report. Human & experimental toxicology. 2011 Oct; 30(10):1724-7. doi: 10.1177/0960327110396533. [PMID: 21247997]
  • Laurie H Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang. A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. PloS one. 2011; 6(11):e27348. doi: 10.1371/journal.pone.0027348. [PMID: 22132097]
  • Guilhian Leipnitz, Bianca Seminotti, Alexandre U Amaral, Carolina G Fernandes, Carlos S Dutra-Filho, Moacir Wajner. Evidence that 2-methylacetoacetate induces oxidative stress in rat brain. Metabolic brain disease. 2010 Sep; 25(3):261-7. doi: 10.1007/s11011-010-9204-z. [PMID: 20838866]
  • V A Khripach, V N Zhabinskiĭ, K V Parkhimovich, O V Gyliakevich. [Synthesis of brassinolide and its biosynthetic precursors using methyl-3-hydroxy-2-methylpropionate]. Bioorganicheskaia khimiia. 2009 Mar; 35(2):260-9. doi: 10.1134/s1068162009020137. [PMID: 19537178]
  • Judit García-Villoria, Aleix Navarro-Sastre, Carme Fons, Celia Pérez-Cerdá, Antonio Baldellou, Miguel Angel Fuentes-Castelló, Inmaculada González, Arturo Hernández-Gonzalez, Cristina Fernández, Jaume Campistol, Carina Delpiccolo, Nuria Cortés, Angel Messeguer, Paz Briones, Antonia Ribes. Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clinical biochemistry. 2009 Jan; 42(1-2):27-33. doi: 10.1016/j.clinbiochem.2008.10.006. [PMID: 18996107]
  • Jörn Oliver Sass, Rosemarie Forstner, Wolfgang Sperl. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. Brain & development. 2004 Jan; 26(1):12-4. doi: 10.1016/s0387-7604(03)00071-8. [PMID: 14729408]
  • T Fukao, G X Zhang, N Sakura, T Kubo, H Yamaga, A Hazama, Y Kohno, N Matsuo, M Kondo, S Yamaguchi, Y Shigematsu, N Kondo. The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. Journal of inherited metabolic disease. 2003; 26(5):423-31. doi: 10.1023/a:1025117226051. [PMID: 14518824]
  • V R Sutton, W E O'Brien, G D Clark, J Kim, R J A Wanders. 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. Journal of inherited metabolic disease. 2003; 26(1):69-71. doi: 10.1023/a:1024083715568. [PMID: 12872843]
  • S Aramaki, D Lehotay, L Sweetman, W L Nyhan, S C Winter, B Middleton. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. Journal of inherited metabolic disease. 1991; 14(1):63-74. doi: 10.1007/bf01804391. [PMID: 1861461]
  • J V Leonard, B Middleton, J W Seakins. Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. Pediatric research. 1987 Feb; 21(2):211-3. doi: 10.1203/00006450-198702000-00020. [PMID: 2881245]
  • B Middleton, K Bartlett, A Romanos, J Gomez Vazquez, C Conde, R A Cannon, M Lipson, L Sweetman, W L Nyhan. 3-Ketothiolase deficiency. European journal of pediatrics. 1986 Apr; 144(6):586-9. doi: 10.1007/bf00496042. [PMID: 3709573]
  • C Jakobs, L Sweetman, W L Nyhan. Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. Clinica chimica acta; international journal of clinical chemistry. 1984 Jul; 140(2):157-66. doi: 10.1016/0009-8981(84)90340-1. [PMID: 6467607]
  • B Middleton, K Bartlett. The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria. Clinica chimica acta; international journal of clinical chemistry. 1983 Mar; 128(2-3):291-305. doi: 10.1016/0009-8981(83)90329-7. [PMID: 6133656]
  • M J Bennett, J M Littlewood, A MacDonald, R J Pollitt, J Thompson. A case of beta-ketothiolase deficiency. Journal of inherited metabolic disease. 1983; 6(4):157. doi: 10.1007/bf02310871. [PMID: 6422156]
  • R B Schutgens, B Middleton, J F vd Blij, J W Oorthuys, H A Veder, T Vulsma, W H Tegelaers. Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. European journal of pediatrics. 1982 Sep; 139(1):39-42. doi: 10.1007/bf00442077. [PMID: 7173255]
  • J A DelValle, B Merinero, A Jiménez, M J García, M Ugarte, F Omeñaca, G Neustadt, J Quero. Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency. Journal of inherited metabolic disease. 1982; 5(2):121-4. doi: 10.1007/bf01800005. [PMID: 6820422]
  • B Merinero, J A DelValle, A Jiménez, M J Garcia, M Ugarte, R Solaguren, O López, I Condado. Late onset type of propionic acidaemia: case report and biochemical studies. Journal of inherited metabolic disease. 1981; 4(2):71-2. doi: 10.1007/bf02263596. [PMID: 6790853]
  • L Sweetman, W Weyler, W L Nyhan, C de Céspedes, A R Loria, Y Estrada. Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Biomedical mass spectrometry. 1978 Mar; 5(3):198-207. doi: 10.1002/bms.1200050307. [PMID: 630060]
  • S B Jones, X J Musacchia. Tissue catecholamine levels of the golden hamster (Mesocricetus auratus) acclimated to 7, 22 and 34 degrees C. Comparative biochemistry and physiology. C: Comparative pharmacology. 1975 Dec; 52(2):91-4. doi: 10.1016/0306-4492(75)90019-2. [PMID: 3371]
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