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Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

876

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici

    Orphanet Journal of Rare Diseases
    |September 11, 2014
    PubMed

    Insights

    Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare metabolic disorders. Early diagnosis and treatment are crucial for improving outcomes in these conditions.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders.
    • These conditions result from deficiencies in methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC), leading to toxic acid accumulation.
    • MMA/PA affect approximately 1 in 50,000 and 1 in 100,000-150,000 births, respectively.

    Purpose of the Study:

    • To summarize the clinical presentation, diagnostic challenges, and outcomes of MMA/PA.
    • To highlight the importance of early recognition and management for affected individuals.

    Main Methods:

    • Literature review and synthesis of existing data on MMA/PA.
    • Analysis of clinical manifestations, diagnostic criteria, and therapeutic approaches.

    Main Results:

    • Patients present with diverse symptoms, ranging from acute neonatal crisis to chronic neurological deficits.
    • Long-term complications include neurological damage, chronic kidney disease (MMA), and cardiomyopathy (PA).
    • Outcomes remain poor, even with treatment, often due to delayed diagnosis and rarity.

    Conclusions:

    • Under-recognition and delayed diagnosis contribute to poor outcomes in MMA/PA.
    • Increased awareness among healthcare professionals is vital for timely intervention.
    • Further research into novel therapeutic strategies is warranted to improve patient prognosis.

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