Ganesh S.K., Zakai N.A., van Rooij F.J., Soranzo N., Smith A.V., Nalls M.A., Chen M.H., Kottgen A., Glazer N.L., Dehghan A. et al.

Nat. Genet. 41:1191-1198(2009) GAD 597708 · Mapped (161)
Associated with HEMATOLOGICAL: mean corpuscular hemoglobin; GAD 597708

Christensen E., Ribes A., Busquets C., Pineda M., Duran M., Poll-The B.T., Greenberg C.R., Leffers H., Schwartz M.

J. Inherit. Metab. Dis. 20:383-386(1997) GAD 123825 · Mapped (5)
Associated with OTHER: free glutarate excretion; GAD 123825

Westover J.B., Goodman S.I., Frerman F.E.

Biochemistry 40:14106-14114(2001) GeneRIF 2639 · Mapped (5)
In the oxidative decarboxylation of glutaryl-coenzyme A (CoA) that is catalyzed by glutaryl-CoA dehydrogenase glutaconyl-CoA is the presumed enzyme-bound intermediate. GeneRIF 2639

Kulkens S., Harting I., Sauer S., Zschocke J., Hoffmann G.F., Gruber S., Bodamer O.A., Kolker S.

Neurology 64:2142-2144(2005) GeneRIF 2639 · Mapped (5)
The authors report two GCDH-deficient patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood. GeneRIF 2639

Gordon N.

Brain Dev. 28:136-140(2006) GeneRIF 2639 · Mapped (5)
An autosomal recessive disease thsat leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency (review) GeneRIF 2639

Rao K.S., Albro M., Dwyer T.M., Frerman F.E.

Biochemistry 45:15853-15861(2006) GeneRIF 2639 · Mapped (5)
The major rate-determining step in the steady-state turnover of glutaryl-CoA dehydrogenase (GCD) occurs at the release of crotonyl-CoA product; the chemical steps and reoxidation of reduced FAD are much faster than the turnover of wild-type GCD. GeneRIF 2639

Garcia P., Martins E., Diogo L., Rocha H., Marcao A., Gaspar E., Almeida M., Vaz C., Soares I., Barbot C. et al.

Eur. J. Pediatr. 167:569-573(2008) GeneRIF 2639 · Mapped (5)
GA I is caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase. GeneRIF 2639

BRIGHT Consortium
Talmud P.J., Drenos F., Shah S., Shah T., Palmen J., Verzilli C., Gaunt T.R., Pallas J., Lovering R., Li K. et al.

Am. J. Hum. Genet. 85:628-642(2009) GeneRIF 2639 · Mapped (10,092)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2639

Strauss K.A., Donnelly P., Wintermark M.

Brain 133:76-92(2010) GeneRIF 2639 · Mapped (5)
Cerebral toxicity caused by GCDH deficiency may induce a state of arteriolar dilation and increased cerebral blood volume. GeneRIF 2639

Park J.D., Lim B., Kim K.J., Hwang Y.S., Kim S.K., Kang S.H., Cho S.I., Park S.S., Lee J.S., Chae J.H.

J. Korean Med. Sci. 25:957-960(2010) GeneRIF 2639 · Mapped (5)
mutational analysis of glutaryl-CoA dehydrogenase in two patients with glutaric aciduria type 1. GeneRIF 2639

Bailey S.D., Xie C., Do R., Montpetit A., Diaz R., Mohan V., Keavney B., Yusuf S., Gerstein H.C., Engert J.C. et al.

Diabetes Care 33:2250-2253(2010) GeneRIF 2639 · Mapped (10,071)
Observational study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 2639

van der Watt G., Owen E.P., Berman P., Meldau S., Watermeyer N., Olpin S.E., Manning N.J., Baumgarten I., Leisegang F., Henderson H.

Mol. Genet. Metab. 101:178-182(2010) GeneRIF 2639 · Mapped (5)
12 glutaric aciduria type 1 patients were found homozygous for the same A293T mutation in the glutaryl-CoA dehydrogenase (GCDH) gene. GeneRIF 2639

Hendrickson S.L., Lautenberger J.A., Chinn L.W., Malasky M., Sezgin E., Kingsley L.A., Goedert J.J., Kirk G.D., Gomperts E.D., Buchbinder S.P. et al.

PLoS ONE 5:e12862-e12862(2010) GeneRIF 2639 · Mapped (2,645)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2639

Chen J., Wang Z.X., Zhang J.L., Yang Y.L., Chen J., Huang Y.N.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:374-378(2011) GeneRIF 2639 · Mapped (5)
GCDH gene mutations are identified in 8 patients with glutaric aciduria type I GeneRIF 2639

Marti-Masso J.F., Ruiz-Martinez J., Makarov V., Lopez de Munain A., Gorostidi A., Bergareche A., Yoon S., Buxbaum J.D., Paisan-Ruiz C.

Hum. Genet. 131:435-442(2012) GeneRIF 2639 · Mapped (5)
A homozygous disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13. GeneRIF 2639

Lucas T.G., Henriques B.J., Rodrigues J.V., Bross P., Gregersen N., Gomes C.M.

Biochim. Biophys. Acta 1812:1658-1663(2011) GeneRIF 2639 · Mapped (10)
physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss GeneRIF 2639