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Related Experiment Videos

[Vitamin-B12-dependent methylmalonic acidemia in twins].

J Karsten, H G Hansen, R Heuer

    Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
    |May 1, 1983
    PubMed
    Summary

    Identical twins with methylmalonic acidemia, a rare metabolic disorder, showed improved symptoms with a protein-restricted diet and vitamin B12. This highlights vitamin B12 dependency in managing this inborn error of metabolism.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Metabolic acidosis can occur during infections.
    • Hyperglycinemia may indicate underlying inborn errors of metabolism.

    Observation:

    • Identical twins presented with hyperglycinemia and metabolic acidosis during infections.
    • The condition was diagnosed as methylmalonic acidemia, a rare metabolic disorder.

    Findings:

    • A protein-restricted diet and weekly vitamin B12 injections resolved all clinical symptoms.
    • The twins demonstrated a clear dependency on vitamin B12 for metabolic control.

    Implications:

    • Early detection and management of methylmalonic acidemia are crucial.
    • Vitamin B12 supplementation is a key therapeutic strategy for vitamin B12-dependent methylmalonic acidemia.

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  • This case underscores the importance of considering inborn errors of metabolism in pediatric patients with recurrent metabolic disturbances.