Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Tuchman
M
M
Dept of Pediatrics, University of Minnesota, Minneapolis 55455.
Berry
S A
SA
Thuy
L P
LP
Nyhan
W L
WL
D001710:Biotin / Q000627:therapeutic use; D019735:Carbon-Carbon Ligases; D005183:Failure to Thrive / Q000209:etiology*; D005767:Gastrointestinal Diseases / Q000209:etiology*; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007223:Infant; D008025:Ligases / Q000172:deficiency*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy; D009122:Muscle Hypertonia / Q000209:etiology*; D014631:Valerates / Q000652:urine
D014631:Valerates; C002163:beta-methylcrotonylglycine; C004961:beta-hydroxyisovaleric acid; D001710:Biotin; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D005998:Glycine