It is an autosomal recessive disorder caused by a mutation in the DβH gene, which results in the production of a nonfunctional dopamine β-hydroxylase enzyme.

The ANS works via two opposing branches, the sympathetic and parasympathetic, both of which antagonistically control involuntary processes that regulate body homeostasis.

[2] Due to the deficiency of norepinephrine and epinephrine, those affected may present with droopy eyelids (ptosis), nasal congestion, and hypotension.

Males may experience retrograde ejaculation, a discharge of semen backward into the bladder due to dysmotility of their smooth muscle, which is innervated by the ANS.

Excess dopamine can also affect digestion, producing vomiting and inhibiting motor signaling to the GI tract.

[2] Other medications that can bring relief to symptoms include:[10] Vitamin C (ascorbic acid) is a required cofactor for the Dopamine beta hydroxylase enzyme.

L-threo-DOPS has been described as being "very effective for restoring noradrenergic tone and correcting postural hypotension, response to treatment is variable and the long-term and functional outcome is unknown.

The experiences of orthostatic hypotension, exercise intolerance, and "traumatic morbidity related to falls and syncope" have been documented later in lives of people with this condition.

[12] Studies have explored the connection between DβH deficiency, Droxidopa treatment, and the effect on orthostatic tolerance and glucose homeostasis.