Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
Individuals with dopamine β-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing
(orthostatic hypotension), which can cause dizziness, blurred vision, or fainting.
This 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.
People with dopamine β-hydroxylase deficiency experience extreme fatigue during exercise
(exercise intolerance) due to their problems maintaining a normal blood pressure.
Other features of dopamine β-hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time.
Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder.
Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.
