title: Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.
abstract: We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in Argentina. The diagnosis was established at 14 months of age by urinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The patient suffered from severe psychomotor retardation, hypotonia, areflexia, and failure to thrive, and died unexpectedly at 3 years 4 months of life. Brain MRI at 14 months showed signals of the white matter on cerebral T2-weighted, which were indicative of confluent and multiple foci of leukodystrophy, a pattern not previously described in this entity. In addition, high levels of oxypurines were detected in cerebrospinal fluid. This might be related to energetic consequences of the enzyme deficiency in the brain. This case extends the phenotype of isolated MCC deficiency in infancy and suggests this entity should be considered to be one of the possible causes of "metabolic leukodystrophies."
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina. cemeco@hotmail.com
authors.forename: Raquel Dodelson
authors.initials: RD
authors.lastname: de  Kremer
authors.forename: Alexandra
authors.initials: A
authors.lastname: Latini
authors.forename: Terttu
authors.initials: T
authors.lastname: Suormala
authors.forename: E Regula
authors.initials: ER
authors.lastname: Baumgartner
authors.forename: Laura
authors.initials: L
authors.lastname: Laróvere
authors.forename: Gabriel
authors.initials: G
authors.lastname: Civallero
authors.forename: Norberto
authors.initials: N
authors.lastname: Guelbert
authors.forename: Ana
authors.initials: A
authors.lastname: Paschini-Capra
authors.forename: Catalina
authors.initials: C
authors.lastname: Depetris-Boldini
authors.forename: Carlos Quiroga
authors.initials: CQ
authors.lastname: Mayor
mesh_terms: D001921:Brain / Q000473:pathology*; D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D005816:Genetic Complementation Test; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D009422:Nervous System Diseases / Q000201:enzymology* / Q000473:pathology*; D011687:Purines / Q000134:cerebrospinal fluid*
chemical_list: D011687:Purines; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase