HOME

CONTACT

SITE MAP

SUPPORTED BY

  


List of PND

 

 

 

 

 

 

 

 

 

  
BIODEF BIOMDB BIOPKU JAKE Literature Zurich

PNDDB - DBH deficiency

OMIM 223360

Locus: 9q34.3

Gene: DBH

Enzyme: Dopamine beta-hydroxylase (EC 1.14.17.1)

Reaction: Dopamine > (Vit. C) > Norepinephrine

DD: Not reported in children

Diagnosis: CSF; Urine, Blood; DNA
CSF: Norepinephrine (low); HVA (high), MHPG (low), L-Dopa (high)
Urine: HVA (high), Norepinephrine (low)
Plasma: Dopamine (high), Epinephrine (low)
DNA: see PNDDB

Clinical signs & symptoms:
Orthostatic hypotension
Seizures

Treatment:
DL-Dihydroxyphenylserine 250-500 mg/d - 2-3 doses/day

Alternative treatment:

Literature:
Diagnosis
Treatment
 

 


Confidentiality of data relating to individual patients and visitors to the BioPKU Web site, including their identity, is respected by this Web site. The Web site owners undertake to honour or exceed the legal requirements of medical/health information privacy that apply in the country and state where the Web site and mirror sites are located.

Web site and all contents © BioPKU.org 2008 - 2011