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Pathway Description
Dopamine beta-Hydroxylase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-10-27
Dopamine beta-hydroxylase deficiency (or norepinephrine deficiency) is caused by mutation in the gene encoding dopamine beta-hydroxylase. Clinical features include orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history of delayed eye opening. Noradrenaline and adrenaline are generally not detectable in plasma, urine, and cerebrospinal fluid, but dopamine is increased 7- to 12-fold in plasma, 4-fold in urine, and 20-fold in CSF. Treatment with dihydroxyphenylserine has been shown to reduce symptoms and signs of postural hypotension and increase plasma levels of noradrenaline.
References
Dopamine beta-Hydroxylase Deficiency References
[Metagen: DOPAMINE BETA-HYDROXYLASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=445)
[OMIM: 223360](http://omim.org/entry/223360})
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