3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.
Ensenauer
R
R
University Children's Hospital Freiburg, Germany.
Müller
C B
CB
Schwab
K O
KO
Gibson
K M
KM
Brandis
M
M
Lehnert
W
W
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy / Q000652:urine; D002478:Cells, Cultured; D018753:Diet, Protein-Restricted; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D005977:Glutarates / Q000652:urine; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D015093:Meglutol / Q000031:analogs & derivatives / Q000652:urine; D013064:Speech Disorders / Q000209:etiology*; D014631:Valerates / Q000652:urine
D005977:Glutarates; D014631:Valerates; C004961:beta-hydroxyisovaleric acid; C033686:3-methylglutaric acid; C022034:3-methylglutaconic acid; D015093:Meglutol; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase