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

Curious neurologic sequelae in galactosemia.

W Lo, S Packman, S Nash

    Pediatrics
    |March 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

    The subcutaneous administration of sodium sulfadiazine.

    The Journal of pediatrics·2010
    Same author

    Adenosine A2A receptors in ventral striatum, hypothalamus and nociceptive circuitry implications for drug addiction, sleep and pain.

    Progress in neurobiology·2007
    Same author

    Small-area population estimates: a review of methods used in Britain in the 1990s.

    International journal of population geography : IJPG·2002
    Same author

    The determinants of infant mortality in Malaysia: a graphical chain modelling approach.

    Journal of the Royal Statistical Society. Series A, (Statistics in Society)·2002
    Same author

    Contraceptive failure and its subsequent effects in China: a two-stage event history analysis.

    Asia-Pacific population journal·2002
    Same author

    Interrelations between three proxies of health care need at the small area level: an urban/rural comparison.

    Journal of epidemiology and community health·2002

    Classic transferase deficiency galactosemia, treated with lactose restriction, can lead to a unique neurologic syndrome. This suggests a specific subgroup of galactosemia patients may develop characteristic neurological issues despite dietary management.

    Area of Science:

    • Metabolic disorders
    • Neurology
    • Genetics

    Background:

    • Classic transferase deficiency galactosemia is a genetic disorder.
    • Early detection and lactose restriction are standard treatments.
    • Neurologic complications can arise despite adherence to dietary management.

    Purpose of the Study:

    • To identify a potential subgroup of galactosemia patients with distinct neurologic sequelae.
    • To investigate the long-term neurologic outcomes of transferase-deficient galactosemia.
    • To highlight the importance of considering galactosemia in differential diagnoses.

    Main Methods:

    • Case study of two siblings with transferase deficiency galactosemia.
    • Review of medical records and family history.

    Related Experiment Videos

  • Neurodiagnostic studies and physical examinations.

    • Main Results:

    • Both siblings developed progressive mental retardation, tremor, and ataxia.
    • Other potential neurologic causes were systematically ruled out.
    • The observed syndrome appears linked to galactosemia despite dietary management.

    Conclusions:

    • A subgroup of transferase-deficient galactosemia patients may develop characteristic neurologic sequelae.
    • Conventional dietary management may not prevent these neurologic complications in all cases.
    • Galactosemia should be considered in the differential diagnosis of unexplained tremor, ataxia, and mental retardation.