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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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[Adults with an inherited metabolic disorder: a rapidly growing population with unique challenges]

    Nederlands Tijdschrift Voor Geneeskunde
    |August 7, 2014
    PubMed

    Insights

    Inherited metabolic disorders affect over 800 rare conditions, increasingly seen in adults. Improved care is enhancing life expectancy, presenting new challenges for adult medicine.

    Area of Science:

    • Medical Genetics
    • Internal Medicine
    • Rare Diseases

    Background:

    • Inherited metabolic disorders (IMDs) comprise over 800 rare genetic conditions.
    • Historically managed by pediatricians due to early onset and limited life expectancy.
    • A growing number of IMD patients survive into adulthood, necessitating adult care.

    Purpose of the Study:

    • To address the increasing prevalence of adult patients with IMDs.
    • To highlight the unique challenges in adult IMD care, including pregnancy and fasting.
    • To introduce the INVEST group's initiative for improving adult IMD management.

    Main Methods:

    • Review of existing literature and clinical observations regarding IMDs in adults.
    • Identification of specific challenges in adult IMD care.
    • Formation of a collaborative initiative (INVEST group) by internists.

    Main Results:

    • Adult-onset IMDs are increasingly diagnosed.
    • Specific risks like metabolic decompensation during fasting and pregnancy require specialized adult care.
    • The INVEST group aims to standardize and improve care pathways.

    Conclusions:

    • Adults with IMDs represent a growing patient population requiring specialized medical attention.
    • Multidisciplinary care is essential to manage the complexities of IMDs in adulthood.
    • Initiatives like INVEST are crucial for advancing the care of adult IMD patients.

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