Leukodystrophy and CSF Purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency

DODELSON DE KREMER R ; LATINI A; SUORMALA T; BAUMGARTNER ER; LARÓVERE L; CIVALLERO G; GUELBERT N; PASCHINI-CAPRA A; DEPETRIS-BOLDINI C; QUIROGA C

SPRINGER/PLENUM PUBLISHERS

Lugar: New York; Año: 2002 vol. 17 p. 13 - 13

p>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 byurinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The patientsuffered 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 ofthe white matter on cerebral T2-weighted, which were indicative of confluent and multiplefoci of leukodystrophy, a pattern not previously described in this entity. In addition, highlevels of oxypurines were detected in cerebrospinal fluid. This might be related to energeticconsequences of the enzyme deficiency in the brain. This case extends the phenotype ofisolated MCC deficiency in infancy and suggests this entity should be considered to be oneof the possible caus