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Related Experiment Videos

Propionic acidaemia. First case in the Finnish population.

L von Wendt, S Similä, J Ruostesuo

    Annals of Clinical Research
    |January 1, 1983
    PubMed
    Summary

    Propionic acidemia, a metabolic disorder, presents varied symptoms. Early diagnosis is crucial, especially during infections, to detect organic aciduria and improve patient outcomes.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Propionic acidemia is an autosomal recessive disorder caused by propionyl-CoA-carboxylase deficiency.
    • It leads to the urinary excretion of propionic acid, its metabolites, and hyperglycinemia.
    • Clinical presentation ranges from severe neonatal metabolic crisis to milder forms responsive to diet and biotin.

    Observation:

    • The first Finnish patient presented with severe neonatal onset, mimicking nonketotic hyperglycinemia.
    • Despite protein restriction and biotin, the infant experienced psychomotor retardation and died at 8.5 months.
    • Diagnosis was delayed until a severe infection revealed pathognomonic organic aciduria.

    Findings:

    • Propionic acidemia diagnosis can be challenging due to variable presentation.
    • Metabolic blocks may only be detectable under stress conditions like infections.
    • Prompt identification of organic aciduria during illness is critical.

    Implications:

    • Highlights the importance of analyzing urinary organic acids during infections in infants with suspected metabolic disorders.
    • Emphasizes the need for early and accurate diagnosis for effective management of propionic acidemia.
    • Suggests that stress-induced metabolic decompensation is a key diagnostic clue.

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