Lethal late onset cblB methylmalonic aciduria.
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.
Ciani
F
F
Department of Pediatrics, Meyer Children's Hospital, University of Florence, Italy.
Donati
M A
MA
Tulli
G
G
Poggi
G M
GM
Pasquini
E
E
Rosenblatt
D S
DS
Zammarchi
E
E
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
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