Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.
Rolland
M O
MO
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Divry
P
P
Zabot
M T
MT
Guibaud
P
P
Gomez
S
S
Lachaux
A
A
Loras
I
I
D019735:Carbon-Carbon Ligases; D003241:Consanguinity; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007223:Infant; D007930:Leucine / Q000378:metabolism; D008025:Ligases / Q000172:deficiency*
D004044:Dietary Proteins; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D007930:Leucine