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

Pseudoscleroderma and phenylketonuria.

G Y Guillet, N Dore, J P Hehunstre

    International Journal of Dermatology
    |September 1, 1983
    PubMed
    Summary

    A phenylketonuria (PKU) patient

    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

    Bulletin de l'Academie nationale de medecine·2020
    Same author

    [Pandemics: Lessons from the past].

    Bulletin de l'Academie nationale de medecine·2020
    Same author

    [Return of ancestral fears with coronavirus, COVID-19].

    Bulletin de l'Academie nationale de medecine·2020
    Same author

    Potential responses to climate change in organisms with complex life histories: evolution and plasticity in Pacific salmon.

    Evolutionary applications·2015
    Same author

    A phase II study of perifosine (D-21226) in patients with previously untreated metastatic or locally advanced soft tissue sarcoma: A National Cancer Institute of Canada Clinical Trials Group trial.

    Investigational new drugs·2006
    Same author

    Molecular epidemiology of group B streptococci in Ireland: associations between serotype, invasive status and presence of genes encoding putative virulence factors.

    Epidemiology and infection·2003

    Area of Science:

    • Biochemistry
    • Dermatology
    • Pediatrics

    Background:

    • Phenylketonuria (PKU) is an inherited metabolic disorder.
    • PKU requires dietary management to restrict phenylalanine intake.
    • Cutaneous manifestations in PKU are rare but can occur.

    Observation:

    • An infant with partial phenylketonuria presented with pseudoscleroderma.
    • Neurologic and skin symptoms were observed concurrently.
    • The patient was managed with a phenylalanine-restricted diet.

    Findings:

    • A phenylalanine-restricted diet led to significant improvement in both neurologic and cutaneous symptoms.
    • The duration of follow-up was six years.
    • Metabolites of phenylalanine, tryptophan, and tyrosine may play a role in the pathogenesis.

    Implications:

    • Dietary intervention in PKU can positively impact associated dermatologic conditions.
    • Transient hypersensitivity of tissues might link metabolic dysfunction to clinical presentation.
    • Further research into the biochemical pathways is warranted to understand PKU's multifaceted effects.

    Related Experiment Videos