Breastfeeding in phenylketonuric (PKU) and hyperphenylalaninemic (HPA) infants : how and why

According to WHO/UNICEF recommendations, breastfeeding should be also encouraged in phenylketonuric infants because, even if practised only for a short period (20-40 days), its beneficial effect have been largely demonstrated on intelligence quotients, behavioural development and visual performance, if compared with formula feeding. The most important adavantages are due to its lower amount of Phe, its optimal Phe/Tyr ratio and its content of long-chain polyunsaturated fatty acids (LCPUFAs), which positively influence brain's growth and functional development, making human breast milk a relatively low-Phe food. Our aim was to investigate by a questionnaire "ad hoc" 100 mothers of PKU and HPA children, diagnosed by neonatal screening and followed up at our Metabolic Department, and to analyse rates of breastfeeding (compared to healthy population in Lombardy-Italy), the role of the diagnosis' communication on lactation, and the neurological-neuropsychological outcome of patients in primary school-age. Breastfeeding duration rates in our patients are notably lower than in healthy infants. We speculate that the diagnosis of a chronic disorder requiring a strict clinical and dietary management may negatively affect psychological and technical support to maintain breastfeeding in order to gain the expected advantages on infant.