Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Organic acidemias

M J Mahoney

    Clinics in Perinatology
    |March 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Inherited organic acidemias are metabolic disorders diagnosed using gas-liquid chromatography. Prompt diagnosis and treatment of metabolic acidosis lead to excellent prognoses and recovery from neurological deficits.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Long-term control of neuropathic pain in a non-viral gene therapy paradigm.

    Gene therapy·2009
    Same author

    Development of porous PEG hydrogels that enable efficient, uniform cell-seeding and permit early neural process extension.

    Acta biomaterialia·2009
    Same author

    Sport psychology.

    Annual review of psychology·2009
    Same author

    Biocompatibility of PEG-based hydrogels in primate brain.

    Cell transplantation·2008
    Same author

    A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

    American journal of human genetics·2007
    Same author

    [Late first-trimester invasive prenatal diagnosis--secondary publication. An international randomized trial].

    Ugeskrift for laeger·2005
    Same journal

    Breathing Physiology into the Art of Neonatal Respiratory Care.

    Clinics in perinatology·2026
    Same journal

    The Science and Art of Neonatal Respiratory Care.

    Clinics in perinatology·2026
    Same journal

    Ex Utero Artificial Womb Support: Promising Future for Extremely Preterm Infants.

    Clinics in perinatology·2026
    Same journal

    Advances in the Use of Cell-Based Therapies for Prevention of Bronchopulmonary Dysplasia.

    Clinics in perinatology·2026
    Same journal

    Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.

    Clinics in perinatology·2026
    Same journal

    Modern Surfactant Delivery Methods with a Focus on Implementation of Surfactant Administration Through Laryngeal and Supraglottic Airways.

    Clinics in perinatology·2026
    See all related articles

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Inherited organic acidemias are increasingly identified using advanced diagnostic techniques.
    • These metabolic disorders often present with severe symptoms in infancy and childhood.
    • Unexplained diseases in early life warrant investigation for underlying metabolic causes.

    Purpose of the Study:

    • To describe inherited organic acidemias and their diagnostic approaches.
    • To highlight common clinical and laboratory findings.
    • To discuss the impact of timely diagnosis and therapeutic interventions on patient outcomes.

    Main Methods:

    • Gas-liquid chromatography is utilized for diagnosis.
    • Analysis of urine and blood organic acids and derivatives.

    Related Experiment Videos

  • Clinical observation of patient presentations and responses to treatment.

    • Main Results:

    • Common presentations include ketoacidosis, metabolic acidosis, developmental delay, and seizures.
    • Frequent laboratory findings include hyperglycemia, hyperammonemia, and hypoglycemia.
    • Prompt diagnosis and reversal of metabolic acidosis correlate with excellent prognoses.

    Conclusions:

    • Gas-liquid chromatography is crucial for diagnosing inherited organic acidemias.
    • Early intervention improves outcomes, with frequent recovery from neurological deficits.
    • Long-term management involves dietary precursor restriction, with success dependent on residual enzyme activity or alternative pathways.