Dopamine Beta-hydroxylase Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency

Dopamine beta (β)-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).

genetic conditions

1. Introduction

Individuals with dopamine β-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 β-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.

Other features of dopamine β-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.

2. Frequency

Dopamine β-hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature.

3. Causes

Mutations in the DBH gene cause dopamine β-hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine β-hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells.

DBH gene mutations result in the production of a nonfunctional dopamine β-hydroxylase enzyme. People who lack functional dopamine β-hydroxylase cannot convert dopamine to norepinephrine, which leads to a shortage of norepinephrine in the body. The lack of norepinephrine causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine β-hydroxylase deficiency.

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

dopamine β-hydroxylase
noradrenaline deficiency
norepinephrine deficiency

References

Cubells JF, Zabetian CP. Human genetics of plasma dopamine beta-hydroxylaseactivity: applications to research in psychiatry and neurology.Psychopharmacology (Berl). 2004 Aug;174(4):463-76.
Garland EM, Biaggioni I. Dopamine Beta-Hydroxylase Deficiency. 2003 Sep 4[updated 2019 Apr 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1474/
Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D,Kim KS. Mutations in the dopamine beta-hydroxylase gene are associated with humannorepinephrine deficiency. Am J Med Genet. 2002 Mar 1;108(2):140-7.
Robertson D. The pathophysiology and diagnosis of orthostatic hypotension.Clin Auton Res. 2008 Mar;18 Suppl 1:2-7. doi: 10.1007/s10286-007-1004-0.
Senard JM, Rouet P. Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis.2006 Mar 30;1:7. Review.
Vincent S, Robertson D. The broader view: catecholamine abnormalities. ClinAuton Res. 2002 May;12 Suppl 1:I44-9.

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Subjects: Genetics & Heredity

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Nicole Yin

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

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1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1. The Gene associated with Dopamine Beta-hydroxylase Deficiency

4. Inheritance

5. Other Names for This Condition

References