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1. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

Author

Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT, Greenberg CR, Leffers H, and Schwartz M

Subjects
Alleles, DNA Mutational Analysis, Family, Female, Glutaryl-CoA Dehydrogenase, Humans, Infant, Male, Netherlands, Polymerase Chain Reaction, Spain, Amino Acid Metabolism, Inborn Errors genetics, Amino Acid Metabolism, Inborn Errors urine, Glutarates urine, Mutation, Oxidoreductases genetics, Oxidoreductases Acting on CH-CH Group Donors
Published
1997
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