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

Phenotypic expression in mucopolysaccharidosis VII.

P L Bernsen, R A Wevers, F J Gabreëls

    Journal of Neurology, Neurosurgery, and Psychiatry
    |June 1, 1987
    PubMed
    Summary

    Beta-glucuronidase deficiency, a rare disorder causing mucopolysaccharidosis VII, shows significant variation. Diagnosis requires specific enzyme testing beyond routine urine analysis to avoid missed cases.

    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

    Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

    Biochimica et biophysica acta·2011
    Same author

    Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

    Clinical neuropathology·2010
    Same author

    3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

    Neurology·2010
    Same author

    Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.

    Molecular genetics and metabolism·2010
    Same author

    New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

    Journal of neurology, neurosurgery, and psychiatry·2010
    Same author

    Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.

    Clinical genetics·2010

    Area of Science:

    • Biochemistry
    • Genetics
    • Rare Diseases

    Background:

    • Mucopolysaccharidosis VII (MPS VII) is an ultra-rare genetic disorder.
    • It is characterized by a deficiency in the enzyme beta-glucuronidase.
    • Significant phenotypic variability is observed in patients with MPS VII.

    Observation:

    • This study presents clinical findings from 19 previously reported patients and two new cases of MPS VII.
    • Clinical and biochemical evaluations were performed on the new patients.
    • A heterozygous sister exhibited a similar clinical picture, raising questions about attributing all symptoms solely to beta-glucuronidase deficiency.

    Findings:

    • Diagnosis of MPS VII was confirmed by demonstrating beta-glucuronidase deficiency in plasma and leukocytes.

    Related Experiment Videos

  • Hair root analysis was also utilized as a diagnostic method.
  • Increased glycosaminoglycans were not detected in the urine of the two new patients, highlighting diagnostic challenges.

    • Implications:

    • The considerable phenotypic variation in beta-glucuronidase deficiency can lead to missed diagnoses if only routine urine screening for mucopolysaccharidosis is performed.
    • Enzyme activity assays in plasma and leukocytes are crucial for accurate diagnosis.
    • Hair root analysis presents a potentially valuable method for assessing beta-glucuronidase activity.