Deficience DBH
Dopamine beta (beta)-hydroxylase deficiency
- Is a condition that affects the autonomic nervous system
- Controls regulation of blood pressure and body temperature
- Problems related to this disorder can first appear during infancy.
- Episodes of vomiting, dehydration, decreased blood pressure (hypotension),
- Difficulty maintaining body temperature, and low blood glucose (hypoglycemia).
- Typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension),
- Can cause dizziness, blurred vision, or fainting
- Sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older.
- Dopamine ß-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance)
- Due to their problems maintaining a normal blood pressure.
- Droopy eyelids (ptosis),
- Nasal congestion,
- Inability to stand for a prolonged period of time
- Males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder
- Unusually large range of joint movement (hypermobility)
- Muscle weakness
Patient with genetic DBH deficiency
- Needs to be prescribed Droxydopa.
- Fainting, dizzy, very low BP
- Patient paid out of pocket and both had no clue about the drug and do not prescribe it
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- medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/
- This enzyme converts dopamine to norepinephrine,
- DBH gene mutations
- Production of a nonfunctional dopamine ß-hydroxylase enzyme
- Cannot convert dopamine to norepinephrine
- Shortage of norepinephrine in the body
- Difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine ß-hydroxylase deficiency
