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What is dopamine beta hydroxylase deficiency?
Beta hydroxylase is the last enzyme in the synthesis pathway of Norepinephrine, and the encoding gene is located on chromosome 9.
Several recessively inherited mutations of this gene have been detected, resulting in undetectable levels of Norepinephrine in the circulation and tissues.
Patients with this very rare disorder present with severe orthostatic hypotension, episodic hypoglycemia, and hypothermia.
What is the best treatment for dopamine beta hydroxylase deficiency?
Dihydroxyphenylserine (DOPS), a precursor of Norepinephrine, has effectively treated these patients.
