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Immunodeficiency in methylmalonic acidaemia.

S N Wong1, L C Low, Y L Lau

  • 1Department of Paediatrics, Queen Mary Hospital, Hong Kong.

Journal of Paediatrics and Child Health
|April 1, 1992
PubMed
Summary
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Methylmalonic acidaemia in infants can cause severe immunodeficiency and recurrent infections. Early diagnosis and aggressive treatment of infections are crucial for managing this rare metabolic disorder.

Area of Science:

  • Biochemistry
  • Immunology
  • Pediatrics

Background:

  • Methylmalonic acidaemia is a rare inherited metabolic disorder.
  • Infants with this condition can present with severe health issues including metabolic acidosis and pancytopenia.

Purpose of the Study:

  • To describe three Chinese infants diagnosed with methylmalonic acidaemia.
  • To highlight the clinical presentation, diagnostic findings, and outcomes.

Main Methods:

  • Clinical case descriptions of three infants.
  • Biochemical analysis of plasma and urine for methylmalonic acid.
  • Assessment of lymphocyte subsets in one patient.

Main Results:

  • All three infants presented with neonatal onset of poor feeding, lethargy, apnoea, and severe acidosis.

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  • Increased methylmalonic acid levels confirmed the diagnosis.
  • Pancytopenia was observed in all patients; one showed diminished B-lymphocytes and reversed CD4/CD8 ratio.
  • Vitamin B12 treatment was ineffective.
  • Patients suffered severe infections, leading to death in all cases.

    • Conclusions:

    • Methylmalonic acidaemia is associated with severe immunodeficiency.
    • Aggressive management of infections is critical alongside metabolic control for affected infants.