Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
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 relationship to the clinical and biochemical phenotype. In brief, many GCD mutations cause GA1, but none is common. There is little if any relationship between genotype and clinical phenotype, but some mutations, even when heterozygous, seem especially common in patients with normal or only minimally elevated urine glutaric acid.
Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA. stephen.goodman@uchsc.edu
S I
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Goodman
D E
DE
Stein
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S
Schlesinger
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E
Christensen
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M
Schwartz
C R
CR
Greenberg
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ON
Elpeleg
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D005838:Genotype; D005977:Glutarates / Q000097:blood*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010641:Phenotype
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid