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Dopamine beta hydroxylase deficiency

MedGen UID:
341722
Concept ID:
C1857209
Disease or Syndrome
Synonyms: Dopamine beta-hydroxylase deficiency; Dopamine beta-hydroxylase deficiency, congenital; dopamine β-hydroxylase; Noradrenaline deficiency; Norepinephrine deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: DBH
Cytogenetic location: 9q34.2
OMIM: 223360

Disease characteristics

Excerpted from the GeneReview: Dopamine Beta-Hydroxylase Deficiency
Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function that predispose to orthostatic hypotension. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood. The combination of ptosis of the eyelids in infants and children, together with hypotension, is suggestive of the disease. In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization; children have reduced exercise capacity. By early adulthood, individuals have profound orthostatic hypotension, greatly reduced exercise tolerance, ptosis of the eyelids, and nasal stuffiness. Presyncopal symptoms include dizziness, blurred vision, dyspnea, nuchal discomfort, and chest pain. Life expectancy is unknown, but some affected individuals have lived beyond 60 years. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
David Robertson  |  Emily M Garland   view full author information

Additional description

From GHR
Dopamine beta (ß)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia). Individuals with dopamine ß-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine ß-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure. Other features of dopamine ß-hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.  http://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency

Clinical features

Nocturia
MedGen UID:
504302
Concept ID:
CN000018
Finding
Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
Retrograde ejaculation
MedGen UID:
786433
Concept ID:
CN188798
Finding
The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Orthostatic hypotension
MedGen UID:
43803
Concept ID:
C0020651
Finding
A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE.
Orthostatic hypotension
MedGen UID:
43803
Concept ID:
C0020651
Finding
A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE.

Recent clinical studies

Etiology

Gold MS, Blum K, Oscar-Berman M, Braverman ER
Postgrad Med 2014 Jan;126(1):153-77. doi: 10.3810/pgm.2014.01.2735. PMID: 24393762Free PMC Article
Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Jepma M, Deinum J, Asplund CL, Rombouts SA, Tamsma JT, Tjeerdema N, Spapé MM, Garland EM, Robertson D, Lenders JW, Nieuwenhuis S
Neuropsychopharmacology 2011 Jul;36(8):1608-19. Epub 2011 Apr 6 doi: 10.1038/npp.2011.42. [Epub ahead of print] PMID: 21471955Free PMC Article
Magnifico F, Misra VP, Murray NM, Mathias CJ
Clin Auton Res 1998 Jun;8(3):133-8. PMID: 9651662
Smith GD, Watson LP, Pavitt DV, Mathias CJ
J Physiol 1995 Apr 1;484 ( Pt 1):255-65. PMID: 7602525Free PMC Article

Diagnosis

Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Garland EM, Raj SR, Peltier AC, Robertson D, Biaggioni I
Neurology 2011 Feb 1;76(5):456-60. doi: 10.1212/WNL.0b013e31820a0caf. PMID: 21282592Free PMC Article
Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T
Am J Med Genet A 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. PMID: 20186791
O'Connor DT, Cervenka JH, Stone RA, Levine GL, Parmer RJ, Franco-Bourland RE, Madrazo I, Langlais PJ, Robertson D, Biaggioni I
Clin Sci (Lond) 1994 Feb;86(2):149-58. PMID: 8143425
Biaggioni I, Goldstein DS, Atkinson T, Robertson D
Neurology 1990 Feb;40(2):370-3. PMID: 2300263

Therapy

Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Thompson JM, O'Callaghan CJ, Kingwell BA, Lambert GW, Jennings GL, Esler MD
J Auton Nerv Syst 1995 Nov 6;55(3):198-206. PMID: 8801271
Robertson D, Haile V, Perry SE, Robertson RM, Phillips JA 3rd, Biaggioni I
Hypertension 1991 Jul;18(1):1-8. PMID: 1677640
Man in 't Veld AJ, Boomsma F, van den Meiracker AH, Schalekamp MA
Lancet 1987 Nov 21;2(8569):1172-5. PMID: 2890807
Biaggioni I, Robertson D
Lancet 1987 Nov 21;2(8569):1170-2. PMID: 2890806

Prognosis

Garland EM, Raj SR, Peltier AC, Robertson D, Biaggioni I
Neurology 2011 Feb 1;76(5):456-60. doi: 10.1212/WNL.0b013e31820a0caf. PMID: 21282592Free PMC Article
Senard JM, Rouet P
Orphanet J Rare Dis 2006 Mar 30;1:7. doi: 10.1186/1750-1172-1-7. [Epub ahead of print] PMID: 16722595Free PMC Article

Clinical prediction guides

Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Jepma M, Deinum J, Asplund CL, Rombouts SA, Tamsma JT, Tjeerdema N, Spapé MM, Garland EM, Robertson D, Lenders JW, Nieuwenhuis S
Neuropsychopharmacology 2011 Jul;36(8):1608-19. Epub 2011 Apr 6 doi: 10.1038/npp.2011.42. [Epub ahead of print] PMID: 21471955Free PMC Article
Garland EM, Raj SR, Peltier AC, Robertson D, Biaggioni I
Neurology 2011 Feb 1;76(5):456-60. doi: 10.1212/WNL.0b013e31820a0caf. PMID: 21282592Free PMC Article
Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T
Am J Med Genet A 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. PMID: 20186791
Tulen JH, Man in't Veld AJ, Mechelse K, Boomsma F
J Neurol 1990 Apr;237(2):98-102. PMID: 2355243

Recent systematic reviews

Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T
Am J Med Genet A 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. PMID: 20186791

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