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

Dihydrobiopterin biosynthesis deficiency.

J L Dhondt, B Leroux, J P Farriaux

    European Journal of Pediatrics
    |December 1, 1983
    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

    Intrauterine growth restriction, soluble fms-like tyrosine kinase-1 to placental growth factor ratio increase and preeclampsia.

    Journal of gynecology obstetrics and human reproduction·2019
    Same author

    A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE.

    Journal francais d'ophtalmologie·2019
    Same author

    Post-traumatic lower cervical spine instability: arthrodesis clinical and radiological outcomes at 5 years.

    Orthopaedics & traumatology, surgery & research : OTSR·2014
    Same author

    Comparative quantitation of abscisic acid in plant extracts by gas-liquid chromatography and an enzyme-linked immunosorbent assay using the avidin-biotin system.

    Planta·2013
    Same author

    Arthrodesis in septic knees using a long intramedullary nail: 17 consecutive cases.

    Orthopaedics & traumatology, surgery & research : OTSR·2013
    Same author

    An anatomically realistic and adaptable prostate phantom for laser thermotherapy treatment planning.

    Medical physics·2013
    Same journal

    Long-term recurrence and acute seizure clustering in children with convulsions with mild gastroenteritis: a systematic review and meta-analysis.

    European journal of pediatrics·2026
    Same journal

    Cost-benefit analysis of nirsevimab for respiratory syncytial virus prevention in infants: a population-based study.

    European journal of pediatrics·2026
    Same journal

    Consensus statement on the use of standardized early mobilization in pediatric patients admitted to pediatric intensive care units in Italy.

    European journal of pediatrics·2026
    Same journal

    Ultrasound-guided midline catheters in the neonatal intensive care unit: a single-center pilot study.

    European journal of pediatrics·2026
    Same journal

    Gastrointestinal pathogens in paediatric patients with diarrhoea during the COVID-19 pandemic in Spain: a multicentre molecular-based prospective study.

    European journal of pediatrics·2026
    Same journal

    Low serum immunoglobulin levels in pediatric atopic dermatitis: association with disease severity and exploratory scores.

    European journal of pediatrics·2026
    See all related articles

    A newborn screening program identified tetrahydrobiopterin deficiency in an infant by measuring urinary pterins. Early neurotransmitter therapy improved phenylalanine tolerance despite persistent biopterin deficiency.

    Area of Science:

    • Biochemistry
    • Metabolic Disorders
    • Newborn Screening

    Background:

    • Tetrahydrobiopterin (BH4) deficiency is a rare metabolic disorder.
    • Early diagnosis and treatment are crucial to prevent neurological complications.
    • Newborn screening programs utilize urinary pterin analysis to detect BH4 deficiency.

    Observation:

    • A 1-month-old infant presented with hyperphenylalaninemia.
    • Urinary analysis revealed elevated neopterin and decreased biopterin levels.
    • The infant showed impaired conversion of neopterin to biopterin.

    Findings:

    • Despite the biochemical evidence of BH4 deficiency, the infant exhibited no neurological symptoms.
    • Neurotransmitter replacement therapy was initiated at 2.5 months of age.

    Related Experiment Videos

  • Remarkably, the infant demonstrated a rapid increase in dietary phenylalanine tolerance, even with impaired phenylalanine clearance and low biopterin excretion.

    • Implications:

    • This case highlights the potential for early intervention to improve metabolic control in BH4 deficiency.
    • It suggests that neurotransmitter therapy may play a significant role in managing phenylalanine tolerance.
    • Further research is warranted to understand the mechanisms underlying improved phenylalanine tolerance in treated BH4 deficiency.