Article
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
Human mutation - 1 Jan 1998
Goodman S I, Stein D E, Schlesinger S, Christensen E, Schwartz M, Greenberg C R, Elpeleg O N
Abstract excerpt
Glutaric acidemia type I (GA1) is caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCD). Sixty-three pathogenic mutations identified by several laboratories are presented, 30 of them for the first time, together with data on expression in Escherichia coli and relati...
Topics
- Amino Acid Metabolism, Inborn Errors
- Genotype
- Glutarates
- Glutaryl-CoA Dehydrogenase
- Humans
- Mutation
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Phenotype