Dopamine beta-hydroxylase deficiency
What is Dopamine beta-hydroxylase deficiency?
A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
Other condition names
- Noradrenaline deficiency
- Norepinephrine deficiency
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adolescent
- Adult
- Childhood
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.