Glutaryl CoA dehydrogenase deficiency

Kolker S, et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006 59(6) 840-7. 

Strauss KA, et al. Safety, efficacy and physiological actions of a lysine-free, aiginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency focus on cerebral amino acid influx. Mol Genet Metab. 2011 104(l-2) 93-106. 

Lindner M, et al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004 27(6) 851-9. 

Gallagher RC, et al. Glutaryl-CoA dehydrogenase deficiency and newborn screening retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab. 2005 86(3) 417-20. 

Busquets C, et al. Glutaryl-CoA dehydrogenase deficiency in Spain evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res. 2000 48(3) 315-22. 

Hoffmann GF, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996 27(3) 115-23. 

Brandt NJ, et al. Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue. J Pediatr. 1979 94(4) 669-73. 

Chalmers RA, Bain MD, Zschocke J. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency. Mol Genet Metab. 2006 88(l) 29-37. 

High clinical suspicion for organic acid disorders with possibly isolated elevations of pathological metabolites in CSF ( cerebral lactic addemiasj glutaryl-CoA dehydrogenase deficiency disorders of biotin metabolism)... 

Glularic acid 3-OH-Glutaric acid Glutaconic acid Glutaryl-CoA dehydrogenase deficiency [13]... 

Merinero BC, Perez-Cerda LM, Font MJ, Garcia M, Aparicio G et al (1995) Variable presence of urinary glutaric acid in seven Spanish cases with glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 26 238-242... 

Glutaric aciduria due to mitochondrial glutaryl-CoA dehydrogenase deficiency is an autosomal recessively inherited disorder. The defect involves the degradation of lysine, hydroxylysine, and tryptophan and leads in most... 

Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria 1) Leukocytes, 19pl3.2 fibroblasts, liver, kidney 231670... 

Glutaryl-CoA dehydrogenase deficiency Cultured fibroblasts RFLP PCR SSCP Sequencing... 

Christensen, E. (1994) Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency experience using first-trimester chorionic villus sampling. Prenatal Diagnosis, 14, 333-336. 

Gregersen, N. and Brandt, N.J. (1979), Ketotic episodes in glutaryl-CoA dehydrogenase deficiency (Glutaric aciduria). Pediatr. Res., 13,977. 

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