Catecholamine metabolism in kinky hair disease

Abstract

Kinky hair disease is a progressive neurologic disease associated with decreased copper absorption. Because dopamine-β-hydroxylase, an essential enzyme in norepinephrine biosynthesis, is copper-dependent, we studied norepinephrine metabolism in vivo in 5 affected children. Patients with kinky hair disease had decreased plasma norepinephrine concentrations (196±25 pg/ml) in comparison to control patients (325 ± 20 pg/ml, p<0.001). The ratio of total urinary norepinephrine metabolites to total dopamine metabolites was 0.25 ± 0.04 in kinky hair patients and 0.52 ± 0.03 in controls p < 0.001). These data indicate that dopamine-β-hydroxylation in vivo is decreased in patients with kinky hair disease; however, there was no correlation between serum copper concentration and catecholamine abnormality.