DCDF4

Dopamine beta-hydroxylase deficiency, also known as DBH deficiency or DCDF4, is a rare genetic disorder that affects the production of norepinephrine, a crucial neurotransmitter and hormone. This condition is caused by mutations in the DBH gene, which provides instructions for making the enzyme dopamine beta-hydroxylase. This enzyme is essential for converting dopamine into norepinephrine.

Individuals with DCDF4 have significantly reduced or absent levels of norepinephrine. This leads to a range of symptoms that can vary in severity. Common manifestations include orthostatic hypotension, a condition where blood pressure drops significantly upon standing, leading to dizziness or fainting. Other symptoms can include ptosis (drooping eyelids), nasal congestion, hypothermia (low body temperature), and impaired physical endurance. Some individuals may also experience issues with mood regulation.

The inheritance pattern for DCDF4 is autosomal recessive, meaning that an individual must inherit two mutated copies of the DBH gene, one from each parent, to develop the disorder. Diagnosis typically involves biochemical testing to measure DBH enzyme activity and norepinephrine levels, along with genetic testing to identify mutations in the DBH gene. Treatment focuses on managing symptoms, often involving medications to help regulate blood pressure and other physiological functions. The long-term prognosis depends on the severity of symptoms and the effectiveness of management strategies.