Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
Christensen
E
E
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
Ribes
A
A
Busquets
C
C
Pineda
M
M
Duran
M
M
Poll-The
B T
BT
Greenberg
C R
CR
Leffers
H
H
Schwartz
M
M
D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009426:Netherlands; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D016133:Polymerase Chain Reaction; D013030:Spain
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase