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[Methylmalonic aciduria. A case report]

J C van Dyk, J L Meiring, J G Prinsloo

    South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
    |October 30, 1982
    PubMed
    Summary
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    A rare metabolic disorder, methylmalonic aciduria, caused severe illness in an infant. A low-protein diet, not vitamin B12, effectively treated this life-threatening condition.

    Area of Science:

    • Biochemistry
    • Pediatrics
    • Metabolic Disorders

    Background:

    • Methylmalonic aciduria is a group of rare inherited metabolic disorders.
    • These disorders result in the accumulation of methylmalonic acid in the body.
    • Early diagnosis and management are crucial to prevent severe health complications.

    Observation:

    • A 19-month-old Black girl presented with unexplained vomiting, dehydration, and severe acidosis.
    • Initial investigations revealed significant urinary excretion of methylmalonic acid.
    • The patient showed no improvement with vitamin B12 therapy.

    Findings:

    • The patient's condition significantly improved after the implementation of a low-protein diet.
    • This suggests a specific metabolic defect responsive to dietary modification.

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  • Seven biochemical defects associated with methylmalonic aciduria have been previously described.

    • Implications:

    • This case highlights the importance of considering metabolic disorders in infants with severe, unexplained symptoms.
    • Dietary management, specifically a low-protein diet, can be a life-saving intervention for certain types of methylmalonic aciduria.
    • Further research into the specific biochemical pathways and tailored treatments for methylmalonic aciduria is warranted.