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GCDH  -  glutaryl-CoA dehydrogenase

Homo sapiens

Synonyms: ACAD5, GCD, Glutaryl-CoA dehydrogenase, mitochondrial
 
 
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Disease relevance of GCDH

  • Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen [1].
  • In humans, deficiency of GCDH leads to glutaric acidemia type I, an inherited disorder of amino acid metabolism characterized by a progressive neurodegenerative disease [2].
  • The synthetic gene was highly expressed in Escherichia coli, and the 19 kDa GCD was purified to homogeneity after in vitro refolding [3].
  • The only observation we can make is that the fibroadenomas contain more easily identifiable receptor concentrations than BBD and GCD [4].
  • Even if we consider these three histo-pathological entities (BBD, GCD, FA) separately, no correlation can be seen between the presence of receptors and benign breast disease [4].
 

High impact information on GCDH

 

Biological context of GCDH

 

Anatomical context of GCDH

 

Associations of GCDH with chemical compounds

  • Glutaric acidemia type I (GAI) (McKusick 231670) is an autosomal recessive disease affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan, caused by a defect in the gene encoding glutaryl-coenzyme A dehydrogenase (GCDH) and associated with severe neurological symptoms [16].
  • Glutaric acid (GA) and 3-hydroxyglutaric acids (3-OH-GA) are key metabolites in glutaryl co-enzyme A dehydrogenase (GCDH) deficiency and are both considered to be potential neurotoxins [17].
  • Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of L-lysine, L-hydroxylysine, and L-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises [18].
  • 3-Nitropropionic acid (3NP), a succinic dehydrogenase inhibitor with specificity for the striatum, was investigated as a potential initiator of striatal degeneration in GCDH-deficient mice [19].
  • The metabolic hallmark of glutaric aciduria type I (GA I) is the deficiency of glutaryl-CoA dehydrogenase (GCDH) with subsequent accumulation of glutaric acid, 3-hydroxglutaric acid (3-OH-GA) and glutaconic acid [20].
 

Other interactions of GCDH

 

Analytical, diagnostic and therapeutic context of GCDH

References

  1. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Busquets, C., Merinero, B., Christensen, E., Gelpí, J.L., Campistol, J., Pineda, M., Fernández-Alvarez, E., Prats, J.M., Sans, A., Arteaga, R., Martí, M., Campos, J., Martínez-Pardo, M., Martínez-Bermejo, A., Ruiz-Falcó, M.L., Vaquerizo, J., Orozco, M., Ugarte, M., Coll, M.J., Ribes, A. Pediatr. Res. (2000) [Pubmed]
  2. Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene. Koeller, D.M., DiGiulio, K.A., Angeloni, S.V., Dowler, L.L., Frerman, F.E., White, R.A., Goodman, S.I. Genomics (1995) [Pubmed]
  3. Reconstructed 19 kDa catalytic domain of gelatinase A is an active proteinase. Ye, Q.Z., Johnson, L.L., Yu, A.E., Hupe, D. Biochemistry (1995) [Pubmed]
  4. Steroid receptors in benign breast disease, gross cystic disease and fibroadenoma. Nardelli, G.B., Lamaina, V., Siliotti, F. Clinical and experimental obstetrics & gynecology. (1987) [Pubmed]
  5. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Biery, B.J., Stein, D.E., Morton, D.H., Goodman, S.I. Am. J. Hum. Genet. (1996) [Pubmed]
  6. Interaction of guanylyl cyclase C with SH3 domain of Src tyrosine kinase. Yet another mechanism for desensitization. Singh, R. J. Biol. Chem. (2003) [Pubmed]
  7. Accumulation of beta ig-h3 gene product in corneas with granular dystrophy. Klintworth, G.K., Valnickova, Z., Enghild, J.J. Am. J. Pathol. (1998) [Pubmed]
  8. Mutation analysis in glutaric aciduria type I. Zschocke, J., Quak, E., Guldberg, P., Hoffmann, G.F. J. Med. Genet. (2000) [Pubmed]
  9. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Greenberg, C.R., Duncan, A.M., Gregory, C.A., Singal, R., Goodman, S.I. Genomics (1994) [Pubmed]
  10. Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. Fu, Z., Wang, M., Paschke, R., Rao, K.S., Frerman, F.E., Kim, J.J. Biochemistry (2004) [Pubmed]
  11. Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. Mühlhausen, C., Christensen, E., Schwartz, M., Muschol, N., Ullrich, K., Lukacs, Z. J. Inherit. Metab. Dis. (2003) [Pubmed]
  12. Animal models for glutaryl-CoA dehydrogenase deficiency. Koeller, D.M., Sauer, S., Wajner, M., de Mello, C.F., Goodman, S.I., Woontner, M., Mühlhausen, C., Okun, J.G., Kölker, S. J. Inherit. Metab. Dis. (2004) [Pubmed]
  13. Conservation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-coenzyme A dehydrogenase. McMillan, T.A., Gibson, K.M., Sweetman, L., Meyers, G.S., Green, R. J. Biol. Chem. (1988) [Pubmed]
  14. Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. Haworth, J.C., Booth, F.A., Chudley, A.E., deGroot, G.W., Dilling, L.A., Goodman, S.I., Greenberg, C.R., Mallory, C.J., McClarty, B.M., Seshia, S.S. J. Pediatr. (1991) [Pubmed]
  15. Severe isolated Crohn's-like disease of the gastroduodenal tract. Grübel, P., Choi, Y., Schneider, D., Knox, T.A., Cave, D.R. Dig. Dis. Sci. (2003) [Pubmed]
  16. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Schwartz, M., Christensen, E., Superti-Furga, A., Brandt, N.J. Hum. Genet. (1998) [Pubmed]
  17. Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Sauer, S.W., Okun, J.G., Fricker, G., Mahringer, A., Müller, I., Crnic, L.R., Mühlhausen, C., Hoffmann, G.F., Hörster, F., Goodman, S.I., Harding, C.O., Koeller, D.M., Kölker, S. J. Neurochem. (2006) [Pubmed]
  18. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Kölker, S., Garbade, S.F., Greenberg, C.R., Leonard, J.V., Saudubray, J.M., Ribes, A., Kalkanoglu, H.S., Lund, A.M., Merinero, B., Wajner, M., Troncoso, M., Williams, M., Walter, J.H., Campistol, J., Martí-Herrero, M., Caswill, M., Burlina, A.B., Lagler, F., Maier, E.M., Schwahn, B., Tokatli, A., Dursun, A., Coskun, T., Chalmers, R.A., Koeller, D.M., Zschocke, J., Christensen, E., Burgard, P., Hoffmann, G.F. Pediatr. Res. (2006) [Pubmed]
  19. Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity. Bjugstad, K.B., Crnic, L.S., Goodman, S.I., Freed, C.R. J. Inherit. Metab. Dis. (2006) [Pubmed]
  20. Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I. Mühlhausen, C., Ergün, S., Strauss, K.A., Koeller, D.M., Crnic, L., Woontner, M., Goodman, S.I., Ullrich, K., Braulke, T. J. Inherit. Metab. Dis. (2004) [Pubmed]
  21. Genetic and biochemical study in a patient with glutaric acidemia type I. Lin, W.D., Wang, C.H., Lai, C.C., Lee, C.C., Tsai, F.J. J. Formos. Med. Assoc. (2004) [Pubmed]
  22. Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. Millington, D.S., Roe, C.R., Maltby, D.A. Biomed. Environ. Mass Spectrom. (1987) [Pubmed]
  23. Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Tang, N.L., Hui, J., Law, L.K., Lam, Y.Y., Chan, K.Y., Yeung, W.L., Chan, A.Y., Cheung, K.L., Fok, T.F. Hum. Mutat. (2000) [Pubmed]
  24. Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. Amir, N., Elpeleg, O.N., Shalev, R.S., Christensen, E. J. Pediatr. (1989) [Pubmed]
 
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