Abstract
Maternal phenylketonuria(MPKU) is a syndrome caused by high phenylalanine concentrations in serum of pregnant women with phenylketonuria.MPKU results in neonatal microcephaly, facial dysmorphism, congenital heart defects, mental retardation, intrauterine growth restriction, behavior and emotional problems.To control serum Phe level of pregnant phenylketonuria women and maintain Phe concentration between 120 to 360 μmol/L will prevent offspring poor outcomes such as intellectual disabilities and microcephaly.Three level interventions are best ways in MPKU management. Key words: Maternal Hyperphenylalaninemia; Phenylalanine; Dysmorphism
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