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Related Experiment Videos

Lethal late onset cblB methylmalonic aciduria.

F Ciani1, M A Donati, G Tulli

  • 1Department of Pediatrics, Meyer Children's Hospital, University of Florence, Italy.

Critical Care Medicine
|July 13, 2000
PubMed
Summary

Late-onset inborn errors of metabolism can mimic common conditions. This case highlights methylmalonic aciduria, often misdiagnosed, emphasizing the need for metabolic screening in critically ill patients.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Critical Care

Background:

  • Inborn errors of metabolism (IEMs) are often diagnosed in infancy.
  • Late-onset presentations of IEMs can be challenging to diagnose, especially in critically ill patients.
  • Prompt diagnosis of IEMs is crucial for effective management and improved outcomes.

Observation:

  • A previously healthy 12-year-old female presented with acute illness including vomiting, fever, bronchopneumonia, and altered consciousness.
  • Initial investigations revealed ketoacidosis, hyperglycemia, and hyperammonemia, leading to a misdiagnosis of insulin-dependent diabetes mellitus.
  • The patient's condition rapidly deteriorated, resulting in death within three days.

Findings:

  • Postmortem analysis of aqueous humor showed elevated methylmalonic acid levels.

Related Experiment Videos

  • Enzymatic studies on cultured fibroblasts confirmed the diagnosis of cblB methylmalonic aciduria.
  • This diagnosis was made posthumously, as the patient initially presented with symptoms mimicking diabetic ketoacidosis.

    • Implications:

    • This case underscores the importance of considering rare metabolic disorders in the differential diagnosis of acutely ill children, even with seemingly common presentations.
    • Unexplained biochemical abnormalities and a positive family history should prompt suspicion of an underlying inborn error of metabolism.
    • Early recognition and appropriate diagnostic workup for IEMs can prevent misdiagnosis and potentially life-threatening complications.