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PNDDB - DBH deficiency
OMIM 223360
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:
