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PKU-affected women themselves are not at risk of additional complications during pregnancy. [citation needed] In most countries, women with PKU who wish to have children are advised to lower their blood Phe levels (typically to between 2 and 6 mg/dL) before they become pregnant, and carefully control their levels throughout the pregnancy.
Persons with genetic predisposition to PKU have normal mental development on this diet. Previously, it was thought safe to withdraw from the diet in the late teens or early twenties, after the central nervous system was fully developed; recent studies suggest some degree of relapse, and a continued phenylalanine-restricted diet is now recommended.
In 1978 Levy moved to the Boston Children’s Hospital where he expanded the PKU Clinic into the Metabolic Program. [8] Levy's work in both newborn screening and genetic disorders has received global recognition. Early in his career Levy began a close collaboration with Robert Guthrie, the founder of newborn screening.
People with PKU do not have an enzyme needed to process the amino acid phenylalanine, which is responsible for normal growth in children and normal protein use throughout their lifetime. If there is a buildup of too much phenylalanine, brain tissue can be damaged, causing developmental delay.
Untreated PKU results in irreversible neurological damage. [1] After the discovery of PKU as a cause of mental retardation, Horst Bickel and colleagues discovered that it could be treated successfully with a diet low in phenylalanine. [7] The main drawback in successful treatment of PKU was the delay in identifying affected individuals.
To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases and their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial International Working Group on Neurotransmitter ...
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Kathryn Paige Harden is an American psychologist and behavioral geneticist who is Professor of Psychology at the University of Texas at Austin.She leads the Developmental Behavior Genetics lab and acts as co-director of the Texas Twin Project.