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People with PKU need to follow a diet that limits foods with phenylalanine. People with PKU need to avoid various high-protein foods, including: Milk and cheese, Eggs, Nuts, Soybeans, Beans, all meats, Peas, and Beer. This diet would slow down or stop a person’s mental decline. They should also drink a phenylalanine-free formula to still get the protein they’d need.
The PAH gene and its PKU mutations are found on chromosome 12 in the human genome, being autosomal recessive (pp).
It is when there’s a defect in phenylalanine hydroxylase. It will fail to break down the amino acid phenylalanine to turn it into tyrosine.Therefore, there is too much phenylalanine in the bloodstream and brain. This disrupts brain development by coating nerve cells with a protective myelin sheath, leaving those nerve cells to become ineffective, blocking the brain from fully developing.
It really all depends on how quickly the disorder is found. If the disorder isn’t found quick enough, a young infant could already be afflicted with severe mental retardation that’ll stick with them for the rest of their lives. However if given attention to right away, severe mental retardation can be prevented if the person sticks to a restrictive diet that limits their intake of phenylalanine during their brain development stage of life. After the brain is fully developed, people can stick to the diet and be successful in life. If they stray from the diet, it won’t necessarily cause mental retardation but will cause the brain to slow down and limit intellectual capacity. Those who didn’t stick to the diet will also suffer many mental and physical side effects. Adult women with the disorder can still have children but the likelihood that the child will obtain the disorder as well is severely high and can be lowered only if the mother maintains the restrictive diet before pregnancy up until she gives birth. The disorder will not kill the people who have it but will make them struggle throughout the rest of their lives. They won’t be able to freely indulge on different foods or be independent enough to lead their own lives.
Both parents have to pass on an autosomal recessive gene affecting the enzyme phenylalanine hydroxylase.
A person can be a heterozygous carrier for this disorder. They won’t feel the effects of the disorder but they could pass it on to their children. There are no lethal forms.
Growth failure, poor skin pigmentation, eczema, microcephaly, seizures, global developmental delay and severe intellectual impairment, asthma, behavioral problems, hyperactivity, and lethargy.
The incidence of PKU in Caucasian populations is between 1 in 10,000 and 1 in 15,000 people. The table shows the variability in incidence in various countries and regions. It has been suggested that the high incidence of PKU in Turkey is due to the high prevalence of consanguinity and the low incidence seen in Finland and Japan is due to a pronounced negative founder effect in Finland and genetic drift in the founding of the Japanese island population.
Region / Country Incidence of PKU
Asian Populations China 1 : 17,000
Japan 1 : 125,000
Turkey 1 : 2,600
Yemenite Jews (in Israel) 1 : 5,300
Scotland 1 : 5,300
Czechoslovakia 1 : 7,000
Hungary 1 : 11,000
Denmark 1 : 12,000
European Populations
France 1 : 13,500
Norway 1 : 14,500
United Kingdom 1 : 14,300
Italy 1 : 17,000
Canada 1 : 22,000
Finland 1 : 200,000
Arabic Populations Up to 1 : 6,000
Oceania
Australia 1: 10,000
Urine tests; the excess of phenylalanine builds up so much that it’ll excrete phenylpyruvic acid in a person’s urine.
The Guthrie test (Guthrie bacterial inhibition assay); where a doctor could take a sample of blood and put it on a disk of filter paper with bacteria that needs more phenylalanine to grow. Therefore if the blood came from a PKU child then the bacteria would rapidly grow.
An overall blood screening for many genetic diseases