Cobalamin C defect presenting as severe neonatal hyperammonemia

Diego Martinelli, Andrea Dotta, Laura Massella, Stefano Picca, Alessandra Di Pede, Sara Boenzi, Chiara Aiello, Carlo Dionisi-Vici

Research output: Contribution to journalArticlepeer-review


Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism which causes a block in the pathway responsible for the synthesis of its two metabolically active forms methyl- and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The clinical presentation of patients with early-onset Cbl-C defect, characterized by a multisystem disease with severe neurological, ocular, hematological, renal, gastrointestinal, cardiac, and pulmonary manifestations, differs considerably from what observed in the "classical" form of methylmalonic aciduria caused by defect of methylmalonyl-CoA mutase. This last condition is in most cases dominated in the neonatal period by a metabolic encephalopathy "intoxication type" with severe hyperammonemia and ketoacidosis. We report a Cbl-C defect patient presenting a neonatal encephalopathy with severe hyperammonemia and ketoacidosis who was successfully treated with peritoneal dialysis. Conclusion: To the best of our knowledge, there are no reported cases of Cbl-C defect showing an acute presentation resembling a classical methylmalonic aciduria. This observation enlarges the spectrum of inherited diseases to be considered in the differential diagnosis of neonatal hyperammonemia.

Original languageEnglish
Pages (from-to)887-890
Number of pages4
JournalEuropean Journal of Pediatrics
Issue number7
Publication statusPublished - Jul 2011


  • Adenosylcobalamin
  • Cobalamin C defect
  • Homocysteine
  • Methylcobalamin
  • Methylmalonic aciduria
  • Peritoneal dialysis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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