Prenatal diagnosis of classical phenylketonuria in fifteen egyptian families

ABSTRACT

Phenylketonuria [PKU] is one of the most common inborn errors of metabolism; if not diagnosed early and treated by special diet intervention mental retardation is the outcome. Seeking prenatal diagnosis, counseling and diet management is curial for families with PKU. This study reports prenatal diagnosis in 15 Egyptian families with classical PKU. Two different techniques were performed based on the molecular data available from probands. Targeted screening of mutations using RFLP analysis identified three mutations, IVS10-11G/A, R261Q and R252W mutations in five fetuses. Direct sequencing revealed R261X mutation one fetus and Y198_E205>cfs mutation in one allele in another fetus. Indirect linkage analysis by VNTR and STR markers identified 4 affected, two carrier and two normal fetuses. In conclusion, prenatal diagnosis of PKU is an effective tool for prevention of mental retardation and provision of enough time for proper planning and effective management. The molecular tools pursued were efficient and reliable in all families providing them the opportunity of choosing different management strategies