| DOPAMINE BETA-HYDROXYLASE DEFICIENCY (DHB) | |
| DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; DOPAMINE BETA-MONOOXYGENASE | |
|
223360
OMIM = Online Mendelian Inheritance of Men | |
|
230 | |
| Dopamine beta-hydroxylase | |
| 1.14.17.1 | |
| rare autosomal recessive mutation in the DBH gene | |
| Laboratory findings | Homovanillic acid (HVA) inc (urine) Vanillylmandelic acid (VMA) inc (urine) 3-O-methyldopa normal/inc (plasma) Adrenaline dec (plasma) Adrenaline dec (cerebrospinal fluid) Adrenaline dec (urine) D-Glucose normal/dec (plasma) Dopamine inc (urine) Dopamine inc (cerebrospinal fluid) Dopamine inc (plasma) Homovanillic acid (HVA) inc (cerebrospinal fluid) Magnesium n/d (serum) Noradrenaline (Norepinephrine) dec (cerebrospinal fluid) Noradrenaline (Norepinephrine) dec (urine) Noradrenaline (Norepinephrine) dec (plasma) |
| Symptoms | hypoglycemia behavior, abnormal or bizarre, confusion delay in opening eyes (postnatal) exercise intolerance hypotension hypothermia ptosis (drooping eyelid) syncope anemia dehydration enuresis nocturna fatigue, severe or unusual high arched palate hypotonia nasal stuffiness onset, adolescent onset, adulthood onset, childhood renal dysfunction, renal defects seizures vomiting |