Early neurodevelopmental characterization in children with cobalamin C/defect

Daniela Ricci, Diego Martinelli, Gloria Ferrantini, Simona Lucibello, MLuigia Gambardella, Giorgia Olivieri, Daniela Chieffo, Domenica Battaglia, Daria Diodato, Giancarlo Iarossi, Alice M. Donati, Carlo Dionisi-Vici, Roberta Battini

Research output: Contribution to journalArticlepeer-review


Cobalamin C (cblC) defect is the most common inherited disorder of cobalamin metabolism. Developmental delay, behavioral problems, and maculopathy are common, but they have not been systematically investigated. The aim of this study was to define early neurodevelopment in cblC patients and the possible contribution of different factors, such as mode of diagnosis, age at diagnosis, presence of brain lesions and epilepsy. Children up to the age of 4 years with a visual acuity ≥1/10 were evaluated using the Griffiths' Mental Development Scales. Eighteen children were enrolled (age range 12-48 months). Four were diagnosed by newborn screening (NBS); in the others mean age at diagnosis was 3.5 months (range 0.3-18 months). Eight had seizures: three in the first year, and five after the second year of life. Fourteen had brain lesions on magnetic resonance imaging (MRI). Neurovisual assessment evidenced low visual acuity (
Original languageEnglish
JournalJournal of Inherited Metabolic Disease
Publication statusPublished - Jan 1 2019


  • children
  • cobalamin C
  • language
  • neonatal screening
  • neurodevelopment
  • visual acuity

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