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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
Chemical Compound Review

ethylmalonate     2-ethylpropanedioic acid

Synonyms: AG-G-15194, CHEMBL1160009, ACMC-209mi6, HMDB00622, ANW-33436, ...
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Disease relevance of NSC 96615


Psychiatry related information on NSC 96615


High impact information on NSC 96615

  • High levels of ethylmalonic acid are detected in the body fluids, and cytochrome c oxidase activity is decreased in skeletal muscle [6].
  • We have shown previously that a variant allele of the short-chain acyl-CoA dehydrogenase ( SCAD ) gene, 625G-->A, is present in homozygous form in 7% of control individuals and in 60% of 135 patients with elevated urinary excretion of ethylmalonic acid (EMA) [7].
  • One hundred and thirty-five patients from Germany, Denmark, the Czech Republic, Spain, and the United States were selected for this study on the basis of abnormal EMA excretion ranging from 18 to 1185 mmol/mol of creatinine (controls < 18 mmol/mol of creatinine) [8].
  • Gas chromatography and mass spectrometry of urine revealed that ethylmalonic acid was present in all samples but not always at elevated concentrations; methylsuccinic acid and butyrylglycine were sporadically elevated. n-Butyrylcarnitine was often found in urine and plasma [9].
  • A child is reported presenting with a clinical picture suggestive of genetic connective tissue disorders (vascular fragility, articular hyperlaxity, delayed motor development, and normal cognitive development), an absence of pathological ethylmalonic acid excretion during inter-critical phases and a homozygous R163W mutation in the ETHE1 gene [10].

Biological context of NSC 96615


Anatomical context of NSC 96615


Gene context of NSC 96615

  • Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited metabolic disorder biochemically characterized by tissue accumulation of predominantly ethylmalonic acid (EMA) and clinically by neurological dysfunction [15].
  • Metabolic screening was performed during a hospitalization at 8 years of age and revealed an increased excretion of ethylmalonic acid (EMA; 45-80 mmol/mol creatinine, normal 0.2-6.6), suggesting a degradation defect of short-chain fatty acids [16].
  • The urinary excretion of ethylmalonic acid was studied in various patients, including children with glutaric aciduria type II and with beta-ketothiolase deficiency [17].


  1. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Corydon, M.J., Andresen, B.S., Bross, P., Kjeldsen, M., Andreasen, P.H., Eiberg, H., Kølvraa, S., Gregersen, N. Mamm. Genome (1997) [Pubmed]
  2. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Nowaczyk, M.J., Lehotay, D.C., Platt, B.A., Fisher, L., Tan, R., Phillips, H., Clarke, J.T. Metab. Clin. Exp. (1998) [Pubmed]
  3. ETHE1 mutations are specific to ethylmalonic encephalopathy. Tiranti, V., Briem, E., Lamantea, E., Mineri, R., Papaleo, E., Gioia, L.D., Forlani, F., Rinaldo, P., Dickson, P., Abu-Libdeh, B., Cindro-Heberle, L., Owaidha, M., Jack, R.M., Christensen, E., Burlina, A., Zeviani, M. J. Med. Genet. (2006) [Pubmed]
  4. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. van Maldegem, B.T., Duran, M., Wanders, R.J., Niezen-Koning, K.E., Hogeveen, M., Ijlst, L., Waterham, H.R., Wijburg, F.A. JAMA (2006) [Pubmed]
  5. Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Capo-chichi, C.D., Guéant, J.L., Lefebvre, E., Bennani, N., Lorentz, E., Vidailhet, C., Vidailhet, M. Am. J. Clin. Nutr. (1999) [Pubmed]
  6. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Tiranti, V., D'Adamo, P., Briem, E., Ferrari, G., Mineri, R., Lamantea, E., Mandel, H., Balestri, P., Garcia-Silva, M.T., Vollmer, B., Rinaldo, P., Hahn, S.H., Leonard, J., Rahman, S., Dionisi-Vici, C., Garavaglia, B., Gasparini, P., Zeviani, M. Am. J. Hum. Genet. (2004) [Pubmed]
  7. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Gregersen, N., Winter, V.S., Corydon, M.J., Corydon, T.J., Rinaldo, P., Ribes, A., Martinez, G., Bennett, M.J., Vianey-Saban, C., Bhala, A., Hale, D.E., Lehnert, W., Kmoch, S., Roig, M., Riudor, E., Eiberg, H., Andresen, B.S., Bross, P., Bolund, L.A., Kølvraa, S. Hum. Mol. Genet. (1998) [Pubmed]
  8. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Corydon, M.J., Gregersen, N., Lehnert, W., Ribes, A., Rinaldo, P., Kmoch, S., Christensen, E., Kristensen, T.J., Andresen, B.S., Bross, P., Winter, V., Martinez, G., Neve, S., Jensen, T.G., Bolund, L., Kølvraa, S. Pediatr. Res. (1996) [Pubmed]
  9. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. Bhala, A., Willi, S.M., Rinaldo, P., Bennett, M.J., Schmidt-Sommerfeld, E., Hale, D.E. J. Pediatr. (1995) [Pubmed]
  10. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Di Rocco, M., Caruso, U., Briem, E., Rossi, A., Allegri, A.E., Buzzi, D., Tiranti, V. Mol. Genet. Metab. (2006) [Pubmed]
  11. Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues. Ferreira, G.d.a. .C., André, K.R., Schuck, P.F., Viegas, C.M., Tonin, A., Coelho, D.d.e. .M., Wyse, A.T., Wannmacher, C.M., Vargas, C.R., Wajner, M. Metabolic brain disease. (2006) [Pubmed]
  12. Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. Barschak, A.G., Ferreira, G.d.a. .C., André, K.R., Schuck, P.F., Viegas, C.M., Tonin, A., Dutra Filho, C.S., Wyse, A.T., Wannmacher, C.M., Vargas, C.R., Wajner, M. Metabolic brain disease. (2006) [Pubmed]
  13. Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats. Schuck, P.F., Leipnitz, G., Ribeiro, C.A., Dalcin, K.B., Assis, D.R., Barschak, A.G., Pulrolnik, V., Wannmacher, C.M., Wyse, A.T., Wajner, M. Neurochem. Res. (2002) [Pubmed]
  14. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Bok, L.A., Vreken, P., Wijburg, F.A., Wanders, R.J., Gregersen, N., Corydon, M.J., Waterham, H.R., Duran, M. Pediatrics (2003) [Pubmed]
  15. Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. Leipnitz, G., Schuck, P.F., Ribeiro, C.A., Dalcin, K.B., Assis, D.R., Barschak, A.G., Pulrolnik, V., Wannmacher, C.M., Wyse, A.T., Wajner, M. Neurochem. Res. (2003) [Pubmed]
  16. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. Seidel, J., Streck, S., Bellstedt, K., Vianey-Saban, C., Pedersen, C.B., Vockley, J., Korall, H., Roskos, M., Deufel, T., Trefz, K.F., Sewell, A.C., Kauf, E., Zintl, F., Lehnert, W., Gregersen, N. J. Inherit. Metab. Dis. (2003) [Pubmed]
  17. The urinary excretion of ethylmalonic acid: what level requires further attention? Duran, M., Walther, F.J., Bruinvis, L., Wadman, S.K. Biochemical medicine. (1983) [Pubmed]
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