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

3-Hydroxy-3-methylglutaric aciduria.

C L Greene, H M Cann, B H Robinson

    Journal of Neurogenetics
    |April 1, 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

    Cadmium uptake by onions, lettuce and spinach in New Zealand: Implications for management to meet regulatory limits.

    The Science of the total environment·2019
    Same author

    Biowastes to augment the essential oil production of Leptospermum scoparium and Kunzea robusta in low-fertility soil.

    Plant physiology and biochemistry : PPB·2019
    Same author

    The potential of L. scoparium, K. robusta and P. radiata to mitigate N-losses in silvopastural systems.

    Environmental pollution (Barking, Essex : 1987)·2017
    Same author

    Response of Leptospermum scoparium, Kunzea robusta and Pinus radiata to contrasting biowastes.

    The Science of the total environment·2017
    Same author

    Production of Biomass Crops Using Biowastes on Low-Fertility Soil: 1. Influence of Biowastes on Plant and Soil Quality.

    Journal of environmental quality·2016
    Same author

    Production of Biomass Crops Using Biowastes on Low-Fertility Soil: 2. Effect of Biowastes on Nitrogen Transformation Processes.

    Journal of environmental quality·2016
    Same journal

    Novel Variants in PLPBP, SCN1A, and SLC6A1: Genetics, Bioinformatics, and clinical Elucidation of Three Distinct Cases of Developmental and Epileptic Encephalopathy.

    Journal of neurogenetics·2026
    Same journal

    D-ribose-L-cysteine protects against rotenone-induced neurotoxicity in <i>Drosophila</i> via redox, neurotransmitter, and DDC gene regulation.

    Journal of neurogenetics·2026
    Same journal

    Genetic architecture of hereditary spastic paraplegia: from monogenic to oligogenic models.

    Journal of neurogenetics·2026
    Same journal

    Expression of sulfate pathway genes in human neurodevelopment.

    Journal of neurogenetics·2026
    Same journal

    <i>Nckx30c</i>, a <i>Drosophila</i> K<sup>+</sup>-dependent Na<sup>+</sup>/Ca<sup>2+</sup> exchanger, regulates temperature-sensitive convulsions and age-related neurodegeneration.

    Journal of neurogenetics·2026
    Same journal

    A zinc finger MYM-type containing 3 (ZMYM3) allele is associated with autism spectrum disorder in Iranian people.

    Journal of neurogenetics·2026
    See all related articles

    3-Hydroxy-3-methylglutaric aciduria, a rare metabolic disorder, was diagnosed in a newborn. This condition, caused by a deficiency in 3-hydroxy-3-methylglutaryl-coenzyme A lyase, was identified through urine organic acid analysis.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • 3-Hydroxy-3-methylglutaric aciduria is a rare inherited metabolic disorder.
    • Consanguinity in parents can increase the risk of autosomal recessive conditions.

    Observation:

    • A newborn infant presented with hyperammonemia, hypoglycemia, and metabolic acidosis within days of birth.
    • Absence of ketonuria was noted in the patient.
    • Parents of the infant were first cousins.

    Findings:

    • Diagnosis was confirmed by analyzing urinary organic acid profiles.
    • Cultured skin fibroblasts revealed a profound deficiency in 3-hydroxy-3-methylglutaryl-coenzyme A lyase activity.
    • Carrier parents exhibited intermediate levels of the enzyme activity.

    Related Experiment Videos

    Implications:

    • This case highlights the importance of considering inborn errors of metabolism in neonates with severe metabolic derangements.
    • Genetic counseling is crucial for consanguineous couples at risk of recessive disorders.
    • Understanding enzyme deficiencies aids in diagnosis and potential therapeutic strategies for metabolic diseases.