title: Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
abstract: 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.
authors.affiliation: Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil.
authors.forename: L
authors.initials: L
authors.lastname: Pinto
authors.forename: P
authors.initials: P
authors.lastname: Zen
authors.forename: R
authors.initials: R
authors.lastname: Rosa
authors.forename: G
authors.initials: G
authors.lastname: Paskulin
authors.forename: A
authors.initials: A
authors.lastname: Perla
authors.forename: L
authors.initials: L
authors.lastname: Barea
authors.forename: M R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: M F
authors.initials: MF
authors.lastname: Dantas
authors.forename: B
authors.initials: B
authors.lastname: Fowler
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
authors.forename: C
authors.initials: C
authors.lastname: Vargas
authors.forename: M
authors.initials: M
authors.lastname: Wajner
authors.forename: C
authors.initials: C
authors.lastname: Graziadio
mesh_terms: 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
chemical_list: D014631:Valerates; C002163:beta-methylcrotonylglycine; C004961:beta-hydroxyisovaleric acid; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D005998:Glycine