%0 Journal Article %1 Brandt1978 %A Brandt, N. J. %A Brandt, S. %A Christensen, E. %A Gregersen, N. %A Rasmussen, K. %D 1978 %J Clin Genet %K Amino Acid Metabolism, Inborn Errors; Athetosis; Cerebr; Child; Coenzyme A; Female; Glutarates; Humans; Oxidoreductases; al Palsy %N 1 %P 77--80 %T Glutaric aciduria in progressive choreo-athetosis. %V 13 %X The clinical symptoms in a 10-year-old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl-CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.

@article{Brandt1978, abstract = {The clinical symptoms in a 10-year-old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl-CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.}, added-at = {2014-07-19T19:11:26.000+0200}, author = {Brandt, N. J. and Brandt, S. and Christensen, E. and Gregersen, N. and Rasmussen, K.}, biburl = {https://www.bibsonomy.org/bibtex/2bd3c922dc5d00b808131bd8e2e084675/ar0berts}, groups = {public}, interhash = {6cc012a7f0697f50f066c85599ce1303}, intrahash = {bd3c922dc5d00b808131bd8e2e084675}, journal = {Clin Genet}, keywords = {Amino Acid Metabolism, Inborn Errors; Athetosis; Cerebr; Child; Coenzyme A; Female; Glutarates; Humans; Oxidoreductases; al Palsy}, month = Jan, number = 1, pages = {77--80}, pmid = {624191}, timestamp = {2014-07-19T19:11:26.000+0200}, title = {Glutaric aciduria in progressive choreo-athetosis.}, username = {ar0berts}, volume = 13, year = 1978 }