PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

PND General Information

Return to PND Info Home

 

PNDDB - Pediatric Neurotransmitter Diseases


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: