Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.
Treacy
E P
EP
The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland. tchmeta2@indigo.ie
Lee-Chong
A
A
Roche
G
G
Lynch
B
B
Ryan
S
S
Goodman
S
S
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics* / Q000503:physiopathology*; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D018753:Diet, Protein-Restricted; D005977:Glutarates / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase; D006720:Homozygote; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000502:physiology*; D009422:Nervous System Diseases / Q000178:diet therapy / Q000235:genetics* / Q000503:physiopathology*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency / Q000235:genetics*; D010641:Phenotype
D005977:Glutarates; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase