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

Hereditary tyrosinemia type I--an overview.

E A Kvittingen

    Scandinavian Journal of Clinical and Laboratory Investigation. Supplementum
    |January 1, 1986
    PubMed
    Summary

    Hereditary tyrosinemia type I, a genetic disorder, causes liver and kidney problems due to a fumarylacetoacetase deficiency. Diagnosis involves detecting succinylacetone and enzyme assays, with liver transplant as the only cure.

    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

    Depletion of mitochondrial DNA copies/cell in peripheral blood mononuclear cells in HIV-1-infected treatment-naïve patients.

    HIV medicine·2005
    Same author

    Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

    Journal of molecular medicine (Berlin, Germany)·2005
    Same author

    Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.

    Journal of inherited metabolic disease·2003
    Same author

    Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

    Journal of medical genetics·2002
    Same author

    Association between apolipoprotein E genotypes and cancer risk in patients with acquired immunodeficiency syndrome.

    Cancer detection and prevention·2000
    Same author

    Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease.

    Journal of child neurology·2000

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Hereditary tyrosinemia type I is an autosomal recessive metabolic disorder.
    • It leads to progressive liver disease, renal tubular defects, and hypophosphatemic rickets.
    • Hepatocellular carcinoma is common in the chronic form.

    Purpose of the Study:

    • To outline the biochemical basis and diagnostic approaches for Hereditary Tyrosinemia Type I.
    • To highlight the role of fumarylacetoacetase deficiency and succinylacetone accumulation.
    • To discuss diagnostic methods and treatment options.

    Main Methods:

    • Enzyme assays for fumarylacetoacetase (FAH) in lymphocytes and fibroblasts.
    • Measurement of succinylacetone in serum and urine.
    • Analysis of amniotic fluid and chorionic villus samples for prenatal diagnosis.
    • Immunoblotting to detect FAH protein absence in liver tissue.

    Main Results:

    • Deficiency of FAH leads to the accumulation of toxic metabolites like fumaryl- and maleyl-acetoacetate.
    • Elevated succinylacetone levels in serum and urine are key diagnostic markers.
    • FAH enzyme assays and succinylacetone detection enable diagnosis, carrier identification, and prenatal testing.
    • Genetic variants of FAH can complicate diagnostic assays.

    Conclusions:

    • Accurate diagnosis of tyrosinemia type I relies on biochemical markers and enzyme analysis.
    • Prenatal diagnosis is feasible, though genetic variants may pose challenges.
    • Liver transplantation remains the only definitive treatment for this severe metabolic disorder.

    Related Experiment Videos