Objective: High levels of phenylalanine (Phe) have been shown to reduce dopamine (DA) and noradrenaline (NA) production. We have therefore evaluated whether increased serum Phe concentrations lead to increased prolactin (PRL) secretion in phenylketonuria.
Patients: Forty-two patients with classical phenylketonuria were divided into two groups. Group A (n = 19) adhered very strictly to their special diet (Phe = 0.09 +/- 0.039 mmol/l) and Group B (n = 23) were on a 'loose diet' (Phe = 0.77 +/- 0.45 mmol/l). Thirty healthy children of comparable age served as controls.
Measurements: PRL was measured by RIA, and Phe and tyrosine (Tyr) with an amino-acid autoanalyser. Adrenaline (A), noradrenaline (NA), and dopamine (DA) were measured by HPLC.
Results: Serum PRL in group B patients (1595 +/- 57 mU/l) was significantly raised compared to Group A patients (243 +/- 57 mU/l) and controls (201 +/- 55 mU/l) (P < 0.001). Serum DA, A and NA in group B were lower than in group A patients and controls. Serum Phe in group B patients was significantly correlated to serum PRL (r = 0.59) and DA (r = -0.41). Irregular menses were observed in 1/10 women from group A but in 10/13 in group B.
Conclusion: High serum phenylalanine concentrations in phenylketonuric patients not strictly adhering to their diets are correlated with high serum PRL and low serum dopamine concentrations, and a high prevalence of menstrual irregularities.