Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency
Publication year
2021Source
Journal of Inherited Metabolic Disease, 44, 3, (2021), pp. 554-565ISSN
Publication type
Article / Letter to editor

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Organization
Internal Medicine
Human Genetics
Neurology
Laboratory Medicine
Paediatrics
Physiology
Journal title
Journal of Inherited Metabolic Disease
Volume
vol. 44
Issue
iss. 3
Page start
p. 554
Page end
p. 565
Subject
Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 16: Vascular damage RIHS: Radboud Institute for Health Sciences; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical NeuroscienceAbstract
Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphenylserine (L-DOPS). We aimed to summarize clinical, biochemical, and genetic data of all world-wide reported patients with DBH-deficiency, and to present detailed new data on long-term follow-up of a relatively large Dutch cohort. We retrospectively describe 10 patients from a Dutch cohort and 15 additional patients from the literature. We identified 25 patients (15 females) from 20 families. Ten patients were diagnosed in the Netherlands. Duration of follow-up of Dutch patients ranged from 1 to 21 years (median 13 years). All patients had severe orthostatic hypotension. Severely decreased or absent (nor)epinephrine, and increased dopamine plasma concentrations were found in 24/25 patients. Impaired kidney function and anemia were present in all Dutch patients, hypomagnesaemia in 5 out of 10. Clinically, all patients responded very well to L-DOPS, with marked reduction of orthostatic complaints. However, orthostatic hypotension remained present, and kidney function, anemia, and hypomagnesaemia only partially improved. Plasma norepinephrine increased and became detectable, while epinephrine remained undetectable in most patients. We confirm the core clinical characteristics of DBH-deficiency and the pathognomonic profile of catecholamines in body fluids. Impaired renal function, anemia, and hypomagnesaemia can be part of the clinical presentation. The subjective response to L-DOPS treatment is excellent and sustained, although the neurotransmitter profile in plasma does not normalize completely. Furthermore, orthostatic hypotension as well as renal function, anemia, and hypomagnesaemia improve only partially.
This item appears in the following Collection(s)
- Academic publications [227864]
- Electronic publications [107344]
- Faculty of Medical Sciences [86218]
- Open Access publications [76463]
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