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

Benign methylmalonic aciduria.

F D Ledley, H L Levy, V E Shih

    The New England Journal of Medicine
    |October 18, 1984
    PubMed
    Summary
    This summary is machine-generated.

    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

    Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

    JIMD reports·2015
    Same author

    Why commercialization of gene therapy stalled; examining the life cycles of gene therapy technologies.

    Gene therapy·2013
    Same author

    A psychosocial model of a medical problem: Maternal phenylketonuria.

    The journal of primary prevention·2013
    Same author

    Newborn Screening for Glutaric Aciduria-II: The New England Experience.

    JIMD reports·2013
    Same author

    A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

    Journal of human genetics·2009
    Same author

    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

    Molecular genetics and metabolism·2008
    Same journal

    Ebola at 50 - Lessons for Outbreak Response and Preparedness.

    The New England journal of medicine·2026
    Same journal

    Ianalumab plus Eltrombopag in Immune Thrombocytopenia. Reply.

    The New England journal of medicine·2026
    Same journal

    Ianalumab plus Eltrombopag in Immune Thrombocytopenia.

    The New England journal of medicine·2026
    Same journal

    Hypertension Control in Low-Income Patients. Reply.

    The New England journal of medicine·2026
    Same journal

    Hypertension Control in Low-Income Patients.

    The New England journal of medicine·2026
    Same journal

    Hypertension Control in Low-Income Patients.

    The New England journal of medicine·2026
    See all related articles

    A benign variant of methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency has been identified in eight children. These children exhibit normal development without treatment, expanding the known clinical spectrum of this disorder.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Methylmalonic aciduria (MMA) caused by methylmalonyl-CoA mutase deficiency is typically a severe, life-threatening condition.
    • Early diagnosis and intervention are crucial for managing metabolic disorders.

    Purpose of the Study:

    • To identify and characterize a milder, benign clinical variant of methylmalonic aciduria.
    • To expand the understanding of the clinical spectrum of methylmalonyl-CoA mutase deficiency.

    Main Methods:

    • Neonatal urine screening and sibling screening.
    • Biochemical analysis of urinary methylmalonic acid and serum levels.
    • Clinical assessment of growth, development, and psychometric testing.
    • Complementation analysis to investigate enzyme defects.

    Related Experiment Videos

    Main Results:

    • Eight children with a benign variant of MMA were identified through screening.
    • These children showed normal growth and development without specific therapy.
    • Biochemical markers were elevated but within a range distinct from severe cases.
    • No vitamin B12 deficiency or response to B12 supplementation was observed.
    • Complementation analysis indicated defects in the methylmalonyl-CoA mutase apoenzyme in some patients.

    Conclusions:

    • The clinical spectrum of methylmalonyl-CoA mutase deficiency is broader than previously recognized.
    • A benign variant of MMA exists, characterized by normal development and no need for treatment.
    • Routine screening can identify individuals with milder forms of metabolic disorders.