Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge.
The purpose of this review is to set the stage for discussions that follow about the biochemical and molecular bases of glutaric acidaemia type I, and about the pathogenesis of the characteristic acute striatal necrosis that often occurs during the first years of life.
Goodman
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Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO 80045, USA. stephen.goodman@uchsc.edu
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology*; D005977:Glutarates / Q000097:blood / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency*; D017378:Quinolinic Acid / Q000378:metabolism
D005977:Glutarates; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; D017378:Quinolinic Acid; C035736:glutaric acid