Dopamine beta hydroxylase deficiency
Encyclopedia
Dopamine beta hydroxylase deficiency is a condition involving inadequate Dopamine beta hydroxylase
.
and epinephrine
that causes orthostatic hypotension
, nasal stuffiness, and droopy eyelids (ptosis
) among other symptoms. Some people refer to this as norepinephrine
deficiency. It's caused by largely increased amounts of serum dopamine
and release of dopamine in place of norepinephrine. It is difficult for people with this to stand still for longer than one minute. Another symptom is hypoglycemia
which is thought to be caused by adrenomedullary failure and the T-wave abnormalities from failure of noradrenergic control. Also, prolactin
is frequently suppressed by excessive dopamine
. This can also have an impact on digestion. "Dopamine has an emetic effect and inhibitis digestive motricity". People with dopamine beta hydroxylase deficiency may have a paradoxical response to NRI antidepressant medication such as Edronax -- they may experience more depression, less energy, and become more sleepy.
This is a form of dysautonomia
but differentiated from familial dysautonomia
by lack of familial dysautonomic symptoms such as loss of sense of pain and smell.
, and migraines are very interested in studying this disorder, as the persons generally have triple fold amounts of dopamine in their system and yet are generally normal.
Other medications that can bring relief include:
Dopamine beta hydroxylase
Dopamine β-hydroxylase is an enzyme that converts dopamine to norepinephrine.DBH is a 290 kDa copper-containing oxygenase consisting of four identical subunits, and its activity requires ascorbate as a cofactor...
.
Symptoms
A deficiency of norepinephrineNorepinephrine
Norepinephrine is the US name for noradrenaline , a catecholamine with multiple roles including as a hormone and a neurotransmitter...
and epinephrine
Epinephrine
Epinephrine is a hormone and a neurotransmitter. It increases heart rate, constricts blood vessels, dilates air passages and participates in the fight-or-flight response of the sympathetic nervous system. In chemical terms, adrenaline is one of a group of monoamines called the catecholamines...
that causes orthostatic hypotension
Orthostatic hypotension
Orthostatic hypotension, also known as postural hypotension, orthostasis, and colloquially as head rush or dizzy spell, is a form of hypotension in which a person's blood pressure suddenly falls when the person stands up or stretches. The decrease is typically greater than 20/10 mm Hg, and may be...
, nasal stuffiness, and droopy eyelids (ptosis
Ptosis
Ptosis refers to droopiness of a body part. Specifically, it can refer to:* Ptosis * Ptosis * Enteroptosis * Gastroptosis...
) among other symptoms. Some people refer to this as norepinephrine
Norepinephrine
Norepinephrine is the US name for noradrenaline , a catecholamine with multiple roles including as a hormone and a neurotransmitter...
deficiency. It's caused by largely increased amounts of serum dopamine
Dopamine
Dopamine is a catecholamine neurotransmitter present in a wide variety of animals, including both vertebrates and invertebrates. In the brain, this substituted phenethylamine functions as a neurotransmitter, activating the five known types of dopamine receptors—D1, D2, D3, D4, and D5—and their...
and release of dopamine in place of norepinephrine. It is difficult for people with this to stand still for longer than one minute. Another symptom is hypoglycemia
Hypoglycemia
Hypoglycemia or hypoglycæmia is the medical term for a state produced by a lower than normal level of blood glucose. The term literally means "under-sweet blood"...
which is thought to be caused by adrenomedullary failure and the T-wave abnormalities from failure of noradrenergic control. Also, prolactin
Prolactin
Prolactin also known as luteotropic hormone is a protein that in humans is encoded by the PRL gene.Prolactin is a peptide hormone discovered by Henry Friesen...
is frequently suppressed by excessive dopamine
Dopamine
Dopamine is a catecholamine neurotransmitter present in a wide variety of animals, including both vertebrates and invertebrates. In the brain, this substituted phenethylamine functions as a neurotransmitter, activating the five known types of dopamine receptors—D1, D2, D3, D4, and D5—and their...
. This can also have an impact on digestion. "Dopamine has an emetic effect and inhibitis digestive motricity". People with dopamine beta hydroxylase deficiency may have a paradoxical response to NRI antidepressant medication such as Edronax -- they may experience more depression, less energy, and become more sleepy.
This is a form of dysautonomia
Dysautonomia
Dysautonomia is a broad term that describes any disease or malfunction of the autonomic nervous system. This includes postural orthostatic tachycardia syndrome , inappropriate sinus tachycardia , vasovagal syncope, mitral valve prolapse dysautonomia, pure autonomic failure, neurocardiogenic...
but differentiated from familial dysautonomia
Familial dysautonomia
Familial dysautonomia is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce...
by lack of familial dysautonomic symptoms such as loss of sense of pain and smell.
Medications
Most people can be treated using L-Threo-DOPS. Some other OTC medications can be beneficial as well. Researchers of disorders such as depression, schizophreniaSchizophrenia
Schizophrenia is a mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests itself as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social...
, and migraines are very interested in studying this disorder, as the persons generally have triple fold amounts of dopamine in their system and yet are generally normal.
Other medications that can bring relief include:
- phenylpropanolamine- due to pressor response to vascular α-adrenoceptors.
- indomethacin