P189 Oportunities and limits in diagnostic and treatment of phenylketonuria

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Phenilketonuria (PKU) is a rare metabolic desease that in absence of an early dietary treatment introduced from the first month of life leads to ireversible neuro-cognitive disorders. In Romania this condition is diagnosed mostly by newborn screening and the prevalence is 1/10.000 births.

Material and method

The retrospective surwey included a number of 48 children with PKU of 1 to 12 years of age registered in Bucharest and Iasi regional screening centres. The age at diagnostic and at dietary treatment introduction, as well as the blood Phe average concentration within year 2016 were statistically established. The children were assesed as concerns the psychosomatic and growth status.


A number of 43 children from total of 48 were early diagnosed by newborn screening at an average age of 26.13 days (range 11 to 112 days). The dietary treatment to these children was introduced at the average age of 42 days.


At the end of year 2016 the weight of the children was out of the standard WHO±2 SD in 30% of cases and the height of the children was out of WHO standard in 42% of cases.


The cognitive development is variable from normal to severe mental retardation.


The dietary treatment only provides a normal growth in two thirds of the monitored PKU children. The early diagnostic, as well as a good compliance to dietary treatment and monitoring are key factors for a normal development of the affected children. All PKU children that were not diagnosed by newborn screening presented moderate to severe neurocognitive disorders.

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