Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency.

ABSTRACT:

Context

Dopamine β-hydroxylase (DBH) deficiency is a rare genetic disorder characterized by failure to convert dopamine to norepinephrine. DBH-deficient patients lack sympathetic adrenergic function and are therefore predisposed to orthostatic hypotension. DBH-deficient mice exhibit hyperinsulinemia, lower plasma glucose levels, and insulin resistance due to loss of tonic sympathetic inhibition of insulin secretion. The impact of DBH deficiency on glucose homeostasis in humans is unknown.

Case description

We describe the metabolic profile of an adolescent female DBH-deficient patient. The patient underwent genetic testing, cardiovascular autonomic function testing, and evaluation of insulin secretion and sensitivity with hyperglycemic clamp under treatment-naive conditions.

SUBMITTER: Arnold AC 

PROVIDER: S-EPMC5413093 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature