The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I

@article{Schwartz1998TheHG,
  title={The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I},
  author={Marianne Schwartz and Ernst Christensen and Andrea Superti-Furga and Niels Jacob Brandt},
  journal={Human Genetics},
  year={1998},
  volume={102},
  pages={452-458}
}
Glutaric acidemia type I (GAI) (McKusick 231670) is an autosomal recessive disease affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan, caused by a defect in the gene encoding glutaryl-coenzyme A dehydrogenase (GCDH) and associated with severe neurological symptoms. Several pathogenic mutations in GCDH have been reported to cause GAI. One mutation, R402W, is more common than the others, which seem to be private” mutations. Here we report the entire sequences of… CONTINUE READING