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

Dopamine beta-hydroxylase deficiency.

Jean-Michel Senard1, Philippe Rouet

  • 1Club d'Etude du Système Nerveux Autonome, Autonomic Unit of the Department of Clinical Pharmacology and INSERM U586, Faculté de Médecine, 37 allées Jules Guesde, 31073 Toulouse cedex, France. senard@cict.fr

Orphanet Journal of Rare Diseases
|May 26, 2006
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

Methodology of DNA extraction and sequencing from living cardiomyocytes collected by catheter in humans.

Genetics in medicine open·2026
Same author

Unveiling the native architecture of adult cardiac tissue using the 3D-NaissI method.

Cellular and molecular life sciences : CMLS·2025
Same author

Cerebrovascular and cardiovascular autonomic regulation in sickle cell patients with white matter lesions.

European journal of neurology·2024
Same author

The association of catestatin and endocan with the effects of cardiac shock wave therapy: Biomarker sub-study of the randomized, sham procedure-controlled trial.

Frontiers in cardiovascular medicine·2023
Same author

Platelet P2Y<sub>1</sub> receptor exhibits constitutive G protein signaling and β-arrestin 2 recruitment.

BMC biology·2023
Same author

Ephrin-B1 regulates the adult diastolic function through a late postnatal maturation of cardiomyocyte surface crests.

eLife·2023
Same journal

Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.

Orphanet journal of rare diseases·2026
Same journal

Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group.

Orphanet journal of rare diseases·2026
Same journal

Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.

Orphanet journal of rare diseases·2026
Same journal

Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study.

Orphanet journal of rare diseases·2026
Same journal

Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.

Orphanet journal of rare diseases·2026
Same journal

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Orphanet journal of rare diseases·2026
See all related articles

Dopamine beta-hydroxylase (DbetaH) deficiency, a rare autonomic disorder, causes low noradrenaline and adrenaline. Treatment with L-threo-dihydroxyphenylserine (DOPS) effectively restores noradrenaline levels and improves symptoms.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Dopamine beta-hydroxylase (DbetaH) deficiency is a rare primary autonomic failure.
  • Characterized by absent plasma noradrenaline/adrenaline and elevated dopamine.
  • Prevalence is unknown, with few reported cases.

Purpose of the Study:

  • To describe the clinical characteristics and genetic basis of DbetaH deficiency.
  • To evaluate the therapeutic efficacy of L-threo-dihydroxyphenylserine (DOPS).

Main Methods:

  • Clinical case review and genetic analysis of the DBH gene.
  • Assessment of therapeutic response to DOPS administration.

Main Results:

  • DbetaH deficiency presents with cardiovascular issues, notably severe orthostatic hypotension.

Related Experiment Videos

  • Symptoms include perinatal problems, exercise intolerance, and progressive autonomic dysfunction.
  • DOPS therapy successfully normalized plasma noradrenaline and reversed orthostatic intolerance.

    • Conclusions:

    • DbetaH deficiency is an autosomal recessive disorder caused by DBH gene mutations.
    • DOPS is an effective treatment for restoring noradrenaline levels and improving symptoms of DbetaH deficiency.