Glutaric aciduria glutaryl-CoA dehydrogenase deficiency

The first patients with glutaric aciduria were male and female siblings aged 7.5 and 2 years of age respectively, children of unrelated parents, who presented from between 3 and 7.5 months of age with severe neurological deterioration leading to mental retardation, generalized spasticity and 

Brandt, N.J., Brandt, S., Christensen, E., Gregersen, N. and Rasmussen, K. (1978), Glutaric aciduria in progressive choreo-athetosis. Clin, Genet. 13,77. 

Bremer, H. J., Wadman, S.K., Przyrembel, H., Wendel, U. and Lombeck, I. (1976), a-Ketoadipic aciduria - a new inborn defect of lysine degradation. Proceedings of the 12th Meeting of the Society for the Study of Inborn Errors of Metabolism, Heidelberg, 1974. In Inborn Errors of Calcium and Bone Metabolism (eds. H. Bickel and J. Stern), Medical and Technical Publishing Co., Lancaster, pp. 271-285. 

Carson, N.A.J., Scally, B.G., Neill, D.W. and Cam6,1.J. (1968), Saccharopinuria a new inborn error of lysine metabolism. Nature (London), 218,679. 

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