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Chemical Compound Review:

CHEBI:15476 [(2R,3S,4R,5R)-5-(6- aminopurin-9-yl)-4...

Synonyms: AR-1L3756, AC1L4W8N, C03344, 6712-01-2, 2-Methylacetoacetyl-coa, ...

Pang, C.P. et al., Nagasawa, H. et al., Middleton, B. et al., Riudor, E. et al., Gray, R.G. et al., et al.

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Disease relevance of 2-Methylacetoacetyl-coenzyme A

Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected [1].

High impact information on 2-Methylacetoacetyl-coenzyme A

A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities [2].
We also examined fibroblasts from two heterozygotes, the mother and the brother of the case 1 patient, identified on the basis of the results of the enzyme activity measurements, using 2-methylacetoacetyl-CoA as substrate [3].
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia [4]?
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency [5].

Analytical, diagnostic and therapeutic context of 2-Methylacetoacetyl-coenzyme A

(1) 2-Methylacetoacetyl coenzyme A was prepared, purified by ion exchange chromatography as judged by TLC and HPLC and a number of its properties characterised [6].

References

Biochemical investigation of young hospitalized Chinese children: results over a 7-year period. Pang, C.P., Law, L.K., Mak, Y.T., Shek, C.C., Cheung, K.L., Mak, T.W., Lam, C.W., Chan, A.Y., Fok, T.F. Am. J. Med. Genet. (1997) [Pubmed]
A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities. Gray, R.G., Lowther, G.W., Littlewood, J.M., Middleton, B., Bennett, M.J. J. Med. Genet. (1984) [Pubmed]
Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency. Nagasawa, H., Yamaguchi, S., Orii, T., Schutgens, R.B., Sweetman, L., Hashimoto, T. Pediatr. Res. (1989) [Pubmed]
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia? Monastiri, K., Amri, F., Limam, K., Kaabachi, N., Guediche, M.N. J. Inherit. Metab. Dis. (1999) [Pubmed]
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency. Riudor, E., Ribes, A., Perez-Cerda, C., Arranz, J.A., Mora, J., Yeste, D., Castello, F., Christensen, B., Sovik, O. J. Inherit. Metab. Dis. (1995) [Pubmed]
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. Middleton, B., Bartlett, K. Clin. Chim. Acta (1983) [Pubmed]

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