Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.
Pinto
L
L
Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil.
Zen
P
P
Rosa
R
R
Paskulin
G
G
Perla
A
A
Barea
L
L
Baumgartner
M R
MR
Dantas
M F
MF
Fowler
B
B
Giugliani
R
R
Vargas
C
C
Wajner
M
M
Graziadio
C
C
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D002675:Child, Preschool; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D008297:Male; D010641:Phenotype; D020521:Stroke / Q000150:complications*; D014631:Valerates / Q000652:urine
D014631:Valerates; C002163:beta-methylcrotonylglycine; C004961:beta-hydroxyisovaleric acid; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D005998:Glycine