2-Methylacetoacetic acid (BioDeep_00000027886)

   

human metabolite Endogenous blood metabolite


代谢物信息卡片


(+/-)-2-methyl-3-oxobutanoic acid

化学式: C5H8O3 (116.0473)
中文名称: 2-甲基乙酰乙酸
谱图信息: 最多检出来源 () 0%

分子结构信息

SMILES: CC(C(=O)C)C(=O)O
InChI: InChI=1S/C5H8O3/c1-3(4(2)6)5(7)8/h3H,1-2H3,(H,7,8)

描述信息

2-Methylacetoacetic acid (CAS: 2382-59-4) is a metabolite that has an increased excretion in patients with acetoacetyl-CoA thiolase (EC 2.3.1.9) deficiency (OMIM: 607809, ACAT1; OMIM: 100678, ACAT2; OMIM: 604770, ACAA2; OMIM: 607809). Thiolases are ubiquitous and important enzymes. Several isoenzymes are known, which can occur in the cytosol (ACAT2), the mitochondria (ACAT1), or the peroxisomes (ACAA2). Thiolases are CoA-dependent enzymes which catalyze the formation of a carbon-carbon bond in a Claisen condensation step and its reverse reaction via a thiolytic degradation mechanism. Mitochondrial acetoacetyl-coenzyme A (CoA) thiolase (T2) is important in the pathways for the synthesis and degradation of ketone bodies as well as for the degradation of 2-methylacetoacetyl-CoA (PMID: 17371050, 14518824, 9744475, 9001814). Moreover, 2-methylacetoacetic acid is found to be associated with beta-ketothiolase deficiency, which is also an inborn error of metabolism. 2-Methylacetoacetic acid is found in urine and can be used as a biomarker for the diagnosis of beta-ketothiolase deficiency.
2-Methylacetoacetic acid is a metabolite that has an increased excretion in patients with acetoacetyl-CoA thiolase (EC 2.3.1.9) deficiency (OMIM 607809, ACAT1; OMIM 100678, ACAT2; OMIM 604770, ACAA2; OMIM 607809). Thiolases are ubiquitous and important enzymes. Several isoenzymes are known, which can occur in the cytosol (ACAT2), the mitochondria (ACAT1) , or the peroxisomes(ACAA2).

同义名列表

28 个代谢物同义名

(+/-)-2-methyl-3-oxobutanoic acid; (2R)-2-methyl-3-oxobutanoic acid; (2S)-2-Methyl-3-oxobutanoic acid; (-)-2-Methyl-3-oxobutanoic acid; (±)-2-methyl-3-oxobutanoic acid; (S)-2-Methyl-3-oxobutyric acid; (+/-)-2-methyl-3-oxobutanoate; 2-Methyl-3-oxo-butanoic acid; alpha-Methylacetoacetic acid; 2-Methyl-3-oxobutanoic acid; 3-Keto-2-methylbutyric acid; 2-Methyl-3-ketobutyric acid; 2-Methyl-3-oxo-butyric acid; 3-oxo-2-Methylbutyric acid; (S)-2-Acetylpropionic acid; 2-Methyl-3-oxobutyric acid; 2-Methyl-acetoacetic acid; 2-methylacetoacetic acid; alpha-Methylacetoacetate; Α-methylacetoacetic acid; a-Methylacetoacetic acid; 2-Methyl-3-oxo-butanoate; 2-Methyl-3-oxo-butyrate; 2-Methyl-3-oxobutanoate; 3-Keto-2-methylbutyrate; 2-Acetylpropionic acid; 2Methyl-3-ketovalerate; 2-Methylacetoacetate



数据库引用编号

7 个数据库交叉引用编号

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代谢反应

0 个相关的代谢反应过程信息。

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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]
  • 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]
  • Arjun Sengupta, Angika Basant, Soumita Ghosh, Shobhona Sharma, Haripalsingh M Sonawat. Liver Metabolic Alterations and Changes in Host Intercompartmental Metabolic Correlation during Progression of Malaria. Journal of parasitology research. 2011; 2011(?):901854. doi: 10.1155/2011/901854. [PMID: 21772982]
  • 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]
  • Lock Hock Ngu, Md Yunus Zabedah, Balasubramaniam Shanti, Siao Hean Teh. Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. The Malaysian journal of pathology. 2008 Dec; 30(2):109-14. doi: . [PMID: 19291920]
  • I Cubillo Serna, J Suárez Fernández, J M Merino Arribas, J Díaz Ruiz, C Bustamante Hervás, C De Frutos Martínez. [Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onset]. Anales de pediatria (Barcelona, Spain : 2003). 2007 Oct; 67(4):381-4. doi: 10.1016/s1695-4033(07)70658-6. [PMID: 17949650]
  • 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]
  • 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]
  • K Hiyama, N Sakura, T Matsumoto, T Kuhara. Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria. Clinica chimica acta; international journal of clinical chemistry. 1986 Mar; 155(2):189-94. doi: 10.1016/0009-8981(86)90283-4. [PMID: 3698316]
  • 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]