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

Tyrosinemia and intractable seizures.

S S Seshia, T L Perry, K Dakshinamurti

    Epilepsia
    |August 1, 1984
    PubMed
    Summary

    This study reports a rare inherited disorder of tyrosine metabolism, tyrosinemia I, in a child with severe epilepsy and developmental delay. The findings highlight the critical role of tyrosine and methionine metabolism in the central nervous system.

    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

    Energy utilization associated with regular activity breaks and continuous physical activity: A randomized crossover trial.

    Nutrition, metabolism, and cardiovascular diseases : NMCD·2018
    Same author

    The classification of chronic headache: room for further improvement?

    Cephalalgia : an international journal of headache·2010
    Same author

    Antimicrobial drug use in hospitals.

    Canadian Medical Association journal·2010
    Same author

    Appraisal of pediatric cardiopulmonary resuscitation.

    Canadian Medical Association journal·2010
    Same author

    Delayed exhibition of erythroblastosis fetalis after eight normal pregnancies.

    The Journal of pediatrics·2010
    Same author

    Blood pressure regulation and micronutrients.

    Nutrition research reviews·2008

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatric Neurology

    Background:

    • Inherited metabolic disorders can present with complex neurological and hepatic symptoms.
    • Tyrosinemia I is a rare genetic condition affecting tyrosine metabolism.
    • Early diagnosis and understanding of metabolic disturbances are crucial for patient outcomes.

    Observation:

    • A child presented with intractable seizures and developmental retardation from 10 months of age.
    • Jaundice and hepatosplenomegaly developed at 23 months, preceding death at 25 months.
    • Elevated methionine and tyrosine levels were observed in urine, plasma, cerebrospinal fluid (CSF), and brain tissue, with higher concentrations in the CNS.

    Findings:

    • The enzyme 4-hydroxyphenylpyruvate dioxygenase was undetectable in skin fibroblasts and liver.
    • Biochemical data strongly indicated an inherited disorder of tyrosine metabolism, specifically tyrosinemia I.
    • Metabolic disturbances in tyrosine and methionine within the central nervous system (CNS) were significant.

    Implications:

    • Tyrosinemia I should be considered in the differential diagnosis of children with unexplained epilepsy and neurological deficits.
    • Hepatic dysfunction developing in children on anticonvulsants warrants investigation for underlying metabolic disorders like tyrosinemia I.
    • The CNS impact of tyrosine and methionine metabolism disturbances in tyrosinemia I may be underestimated and warrants further research.

    Related Experiment Videos