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Phenylketonuria (PKU) is the most frequent inherited metabolic disorder and results in progressive mental retardation. The incidence of PKU varies widely in neonates: it is high in Turkey (1:2600) and Ireland (1:4500) and low in Japan (1:125 000).1
The incidence of the disease is unknown in Tunisia and North Africa. In the absence of a newborn screening program for PKU and considering the high rate of consanguineous marriages in Tunisia, this study aimed to assess the incidence of PKU among institutionalised patients with a mental handicap.