Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.
Mourmans
J
J
Department of Pediatrics, University Hospital of Nijmegen, The Netherlands.
Bakkeren
J
J
de Jong
J
J
Wevers
R
R
van Diggelen
O P
OP
Suormala
T
T
Baumgartner
R
R
Wendel
U
U
D019735:Carbon-Carbon Ligases; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007223:Infant; D008025:Ligases / Q000172:deficiency*; D008297:Male; D014631:Valerates / Q000652:urine
D004044:Dietary Proteins; D014631:Valerates; C002163:beta-methylcrotonylglycine; C004961:beta-hydroxyisovaleric acid; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D002331:Carnitine; D005998:Glycine