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PHEnylketonuria and Pregnancy

Source: mchneighborhood.ichp.edu
Topic: Phenylketonuria
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Sort Desciption: Phenylketonuria (PKU) is an inborn error in the metabolism of the amino acid phenylalanine (PHE) ... page 2 of 2 Phenylketonuria and Pregnancy, part I. for ...

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What is Maternal PKU? An elevated maternal level of Phenylalanine that causes damage to a developing fetus is termed maternal PKU. The term refers to the cause of the damage, rather than to the features of the damage. There is a 1:1.5 gradient of PHE across the placenta. Thus, the fetus is exposed to a higher concentration of PHE than that which exists in maternal blood. Because of this gradient, serum PHE levels that are safe for adults are harmful to the fetus. The higher the serum PHE concentration, the greater the degree of damage to the fetus. What are the effects of untreated or poorly treated Maternal PKU on reproductive outcomes? Elevated maternal serum PHE levels may cause spontaneous abortion, microcephaly, congenital cardiac anomalies, poor intrauterine growth, and mental retardation. Serum PHE levels at the time of conception and in early pregnancy are the most critical to the organ development of the fetus. What is the intellectual development of children of women with PKU? The intellectual development of children whose mothers have PKU appears to be directly related to maternal serum PHE levels. The Maternal PKU Collaborative Study provides some data about intellectual development: Almost 100% of the children whose mothers had serum PHE levels of > 20 mg/dl were mentally retarded. More than 20% of the children of women who had serum levels between 3-10 mg/dl were ...

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