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Children with phenylketonuria (PKU) follow a diet with very low intakes of natural protein, which is devoid of food sources of the omega-3 docosahexaenoic acid (DHA). A resulting DHA depletion has been demonstrated in PKU children and may account for detectable subtle neurological deficits that are not explained by variation in plasma phenylalanine concentrations. We supplemented 36 children with PKU ages 1 to 11 years for 3 months with encapsulated fish oil providing a daily dose of 15 mg DHA/kg body weight. DHA supplementation resulted in significantly faster visual evoked potential latencies, indicating more rapid central nervous system information processing. In addition, DHA significantly improved outcomes in a test of motor function and coordination. No changes over time were seen in age-matched healthy controls. Because the PKU children had a good supply of the omega-3 precursor alpha-linolenic acid, these observations lead us to conclude that endogenous conversion of alpha-linolenic acid is not sufficient to provide adequate amounts of DHA that support optimal function, and hence DHA appears to be a conditional essential substrate for children with PKU. Because early treated PKU children are healthy, with normal fatty acid turnover, these data may indicate a need to supply some DHA to children in general. Further studies are ongoing aiming at establishing quantitative DHA requirements in children.

Desmopressin (DDAVP) affects haemostasis by the release of von Willebrand factor and coagulation factor VIII from endothelium. The aim of the study was to evaluate the results of DDAVP testing in paediatric patients with congenital bleeding disorders. Forty-one patients consisting of children with von Willebrand's disease (VWD, n = 26) and platelet function defects (PFD, n = 15) received DDAVP intravenously at a dosage of 0.3 mug/kg over 30 min. FVIII activity (FVIII), von Willebrand factor antigen (VWF:Ag), collagen-binding activity (VWF:CB) and PFA 100((R)) closure times (CT) were measured before, 60, 120 and 240 min after DDAVP. In VWD, the VWF:Ag increased threefold until 60 min and then it decreased continuously. Compared with baseline, VWF:Ag was significantly higher at 60 and 120 min but not at 240 min. In contrast, in PFD, the peak of VWF:Ag was reached after 120 min. Two hundred and forty minutes after DDAVP, the mean was still significantly elevated compared with baseline values. The course of VWF:CB corresponded to that of VWF:Ag. In patients with VWD and PFD, FVIII rose two- to threefold within 2 h after DDAVP. CT in patients with VWD shortened markedly within 120 min and then rose again. In all children with PFD, except one non-responder, the CT shortened within 240 min after DDAVP. Two non-responders with VWD were identified by the failed increase of VWF:Ag, VWF:CB and by prolonged CT. Haemostatic effects of DDAVP differ interindividually and dependent on the coagulation disorder. DDAVP was effective in most, but not in all patients. DDAVP testing is recommended to determine the individual haemostatic response.