Summary
46 Dopamine beta hydroxylase deficiency is a disease which affects the body’s ability to regulate blood pressure and body temperature. symptoms typically begin in late childhood and include vomiting, dehydration, low blood pressure, especially upon standing (orthostatic hypotension), and low blood sugar levels (hypoglycemia). low blood pressure can also cause dizziness, blurred vision, and difficulty exercising. some people have experienced drooping eyelids (ptosis), muscle pain, and weakness. dopamine beta hydroxylase deficiency is caused by mutationin the dbh gene and is inherited in an autosomal recessivemanner. diagnosis is based on blood tests showing high dopamine levels and low norepinephrine levels. treatment with a synthetic form of norepinephrine can reduce hypotension.
All SNPs
Genes | SNP | Risk Alleles |
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