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PKU |
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PKU: see phenylketonuria phenylketonuria (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich
..... Click the link for more information. . phenylketonuria (PKU)or phenylpyruvic oligophreniaInability to normally metabolize phenylalanine, the accumulation of which interferes with normal childhood development. Central nervous system effects include intellectual disability and seizures (see epilepsy), with behavioral signs seen at four to six months of age. Abnormal metabolism also leads to low melanin levels, with light hair, eye, and skin colour. Tests detect this recessive genetic disorder (see congenital disorder; recessiveness) in two-thirds of the 1 in 10,000 newborns born with high levels of phenylalanine. Keeping phenylalanine out of the diet (by total avoidance of meat, dairy, and high-protein foods and aspartame) until adolescence permits normal development. Protein is supplied in a phenylalanine-free formula. Pregnant women with PKU must resume the diet to prevent severe damage to the unborn child. PKU (medicine) Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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