title: Lethal late onset cblB methylmalonic aciduria.
abstract: OBJECTIVE
  To alert the physicians to the possibility of a late-onset inborn error of metabolism in an apparently previously healthy patient with acute clinical presentation.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Pediatric unit and general intensive care unit.
  
  
  METHODS
  An apparently previously healthy 12-yr-old female presented acutely with vomiting, fever, bronchopneumonia, and progressive loss of consciousness associated with ketoacidosis, hyperglycemia, and hyperammonemia. She died 3 days later with a diagnosis of insulin-dependent diabetes mellitus.
  
  
  METHODS
  Intravenous hydration, glucose and insulin, mechanical ventilation.
  
  
  RESULTS
  Organic acid analysis on a postmortem sample of aqueous humor revealed high levels of methylmalonic acid. Enzymatic studies on cultured fibroblasts were consistent with the diagnosis of cblB methylmalonic aciduria.
  
  
  CONCLUSIONS
  The diagnosis of cblB methylmalonic aciduria was made in a postmortem patient who died with a misdiagnosis of insulin-dependent diabetes mellitus. Unclear biochemical findings and positive family history should strongly lead to suspicion of an inborn error of metabolism in an apparently previously healthy critically ill patient.
authors.affiliation: Department of Pediatrics, Meyer Children's Hospital, University of Florence, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Ciani
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: G
authors.initials: G
authors.lastname: Tulli
authors.forename: G M
authors.initials: GM
authors.lastname: Poggi
authors.forename: E
authors.initials: E
authors.lastname: Pasquini
authors.forename: D S
authors.initials: DS
authors.lastname: Rosenblatt
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins / Q000378:metabolism*; D002648:Child; D016638:Critical Illness; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D008764:Methylmalonic Acid / Q000652:urine*; D010750:Phosphoproteins / Q000378:metabolism*; D011518:Proto-Oncogene Proteins / Q000378:metabolism*; D050721:Proto-Oncogene Proteins c-cbl; D013997:Time Factors; D044767:Ubiquitin-Protein Ligases
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D010750:Phosphoproteins; D011518:Proto-Oncogene Proteins; D008764:Methylmalonic Acid; C492211:CBLB protein, human; D050721:Proto-Oncogene Proteins c-cbl; D044767:Ubiquitin-Protein Ligases