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Phenylketonuria
Get the facts on Phenylketonuria treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Phenylketonuria prevention, screening, research, statistics and other Phenylketonuria related topics. We answer all your qestions about Phenylketonuria.
Question: Phenylketonuria? My son has pku (phenylketonuria) if you, a friend or family member has this, how do you (or they) feel about having it.
what bumbs in the road have you hit by having pku?.
I'd like an idea to what my son may face one day.
he is on his diet, what social problems may he face with his peers etc
Answer: My six year old daughter has PKU. She knows that she is only allowed certain foods. Where we live (Eugene, Oregon) there are many different diets anyway. There are people who are vegans, vegetarians, etc. This makes it a bit easier for her to have her diet without too much fuss. Sometimes kids want to share food with her, but she knows that if there are nuts or peanut butter in it that she cannot eat it. The same with meat. For the most part, she has not experienced adverse social effects from her diet. Mainly, kids are curious and ask her questions. We have taught her that God made her this way, and that He has His reasons. She has accepted her condition, and is healthy and well-liked at school.
Question: What can you eat with Phenylketonuria? My friend has Phenylketonuria and I would like to know what type of food thing should I get her for Christmas. I am making all of my friends Candy bags, but I am not sure what to get her. Anything will be useful!
Answer: Basically, you have to eat things that are low in protein. Chocolate that's dark (not made with milk) and sweetened with sugar (NOT sugar free!) should be fine, as should any hard candies that are made with real sugar- jolly ranchers, life savers, so on.
Question: Phenylketonuria: infectious or non infectious and what are the economic and social consequences of the disease? Is PKU infectious or non infectious and what are the economic and social consequences of the disease?
Answer: PKU is autosomal recessive genetic disorder characterized by a deficiency in the enzyme hepatic phenylalanine hydroxylase (PAH).
Non- infectious.
For consequences go here:
http://en.wikipedia.org/wiki/PKU
and here:
http://www.pkunews.org/
there is a link there for students writing papers as well. Good luck with your paper.
Question: Emma and Gus are physically normal but they have a daughter with phenylketonuria, an autosomal recessive ? disease. the daughter is homozygous recessive. What are emma and Gus's genotypes?
Answer: It means the the father and the mother are both carrying one dominant regular gene, and one recessive disease gene. So if you use P to stand for dominant normal, and p to stand for recessive disease, their genotypes are Pp and Pp.
Their daughter with the disease is pp, and both of her genes are recessive, so she has the disease.
They could also have other children with PP (normal, not carrying the disease) and Pp, (normal but carrying the disease)
Pp is the most likely genotype for their children, at 50% probability. PP and pp both have 25% probability.
Question: What is the latest nutritional treatment for phenylketonuria?
Answer: Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. PKU can cause severe mental retardation if not treated.
Phenylalanine is 1 of the 8 essential amino acids found in protein-containing foods. In PKU, phenylalanine cannot be used in a normal fashion because of the missing enzyme. Subsequently, high levels of phenylalanine, and 2 closely-related phenylalanine derivatives, build up in the body. These compounds are toxic to the central nervous system and cause brain damage.
Damage to the brain causes marked mental retardation by the end of the first year of life if the offending proteins are not scrupulously avoided. Older children may develop movement disorders (athetosis), rocking, and hyperactivity.
PKU is a treatable disease that can be easily detected by a simple blood test. Most states require a screening test for all newborns, generally done with a heelstick shortly after birth.
Because phenylalanine is involved indirectly in the production of melanin, the pigment responsible for skin and hair color, children with phenylketonuria often have lighter complexions than their unaffected siblings. There is a characteristic "mousy" odor that results from the accumulation of phenylacetic acid. This odor may be detected on the breath, skin, and urine if the condition has not been treated immediately from birth or if foods containing phenylalanine are consumed.
Treatment includes a diet that is extremely low in phenylalanine, particularly when the child is growing. Strict compliance to the diet is necessary to prevent or minimize mental retardation. This requires close supervision by a registered dietitian or physician, and cooperation of the parent and child.
Phenylalanine occurs in significant amounts in milk, eggs and other common foods. Nutrasweet (aspartame) also contains phenylalanine, and products containing aspartame should be avoided by children with this disorder. A special infant formula called Lofenalac is made for infants with PKU. It can be used throughout life as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids.
Adult women who have PKU and who plan to become pregnant should also adhere to a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy.
Question: All of the following are characteristics of phenylketonuria except? a.)it is a single-gene disorder.
b.)it leads to a dietary requirement for tyrosine.
c.)it is treated by total elimination of dietary phenylalanine.
d.) it results in mental retardation unless treatment is started in infancy.
Answer: Actually there are two answers that are not correct.
b) is the answer you probably want. There is no dietary requirement for tyrosine even though the absent enzyme blocks the conversion of phenylalanine to tyrosine.
But Belle is also correct. Answer (c) is not characteristic. The goal of treatment is to restrict, but not entirely eliminate phenylalanine from the diet. As Belle stated, phenylalanine is an essential amino acid, and even people with PKU need it.
Question: What healthcare is offered in Mexico for people with Phenylketonuria (PKU)? Would a person with PKU be able to find proper medical treatment in Mexico, or would they have to live close enough to the US to cross the border for every doctor appointment? What about low-protein foods and formulas, would they all have to be imported?
(Also interested to know about other South American countries.)
Answer: i don't know specifics about mexico....but i do know that in the U.S. there are several states that do not force health insurance companies to cover formulas and low-pro foods. i find it very unlikely that a country as poor as mexico would be able to force health insurance to pay for these things. and unless, you're privately wealthy, you won't be able to afford to buy the items yourself as they are extremely expensive. you might be better off living in the U.S. southern states and crossing the border for whatever reason you want to be in mexico for.
Question: Does anyone know the percent of the population affected with phenylketonuria (pku)? I can't seem to find it anywhere, and also if you have any good sites about pku treatment that would be great. It's for a school project.
Answer: PKU affects about 1 in every 15,000 babies every year, but it is higher in some countries (1 in 5000) and lower in others (1 in 100,000). PKU is inherited and the approximate mumber of people with at least one recessive gene for it is about 1 in 50. Websites like WenMd should have information and there is probably a national organization, too. Google for it.
Question: What are some prenatal tests of phenylketonuria (PKU)? What different prenatal tests could have been provided to the parent to have found out about phenylketonuria (PKU) prior to birth?
Answer: I heard once that you can have an amniocentesis done while your pregnant. If you don't know what that is it is a needle through the stomach to extract amniotic fluid. Doctors can sometimes tell if the baby has PKU through the amniotic fluid BUT it's not nearly 100% accurate and very VERY risky to the baby.
I personally say just wait until your child is born and then see what the Newborn screening test results come back as.
Question: Why is the disease Phenylketonuria described as “relatively common”? I know 1 in 50 people carry the gene for this disease, but only 1 in 14000 people are born with it. Why is it then that the disease is described as “relatively common” given these frequencies?
Answer: Population-genetically speaking, any gene which is present at greater than 1% (1 in 100) is considered to be relatively common. The fact that it is recessive, and that there seems to be some selection against it (1 in 50 in heterozygotes should give 1 in 2500 in homozygotes. the fact that it only appears 1 in 14,000 means that the others may not make it to birth) makes the homozygote data skewed.
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