X
xpw
Guest
Im doing a genetics counseling project i need everything about PKU.
anything you can give, websites or anything is cool.
anything you can give, websites or anything is cool.
T
Taylor
Guest
Google it. There are a lot of website on it.
T
Taylor
Guest
Google it. There are a lot of website on it.
K
[email protected]
Guest
Symptoms: Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
Other symptoms may include:
Delayed mental and social skills
Head size significantly below normal
Hyperactivity
Jerking movements of the arms or legs
Mental retardation
Seizures
Skin rashes
Tremors
Unusual positioning of hands
If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body.
Causes: Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.
Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.
Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.
treatment: PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health. “Diet for life” has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy.
Phenylalanine occurs in significant amounts in milk, eggs, and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided.
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.
Taking supplements such as fish oil to replace the long chain fatty acids missing from a standard phenylalanine-free diet may help improve neurologic development, including fine motor coordination. Other specific supplements, such as iron or carnitine, may be needed.
Statistics
KU is found equally in both males and females. The incidence of PKU in the USA among Caucasians is approximately 1 in 10,000 to 15,000. The incidence varies by race and geography.
PKU is the result of a mutation of the gene coded with the instructions for the enzyme phenylalanine hydroxylase (PAH) found on the 12th chromosome (location 12q22-q24.2). PAH is produced in the liver and is responsible for breaking down the amino acid phenylalanine and coverting it into tryosine (another amino acid
In order to be born with PKU, each of the parents has to be a carrier of the recessive gene. A baby born with PKU inherits one recessive mutated allele for PKU from each parent. Carriers have no effects of having one mutated gene because the dominant gene masks the recessive gene.
Mutations that cause PKU can occur at a variety of the DNA base pairs. There are over 400 known mutations that cause PKU. Different mutations have different effects because different genotypes result in different phenotypes.
Name and historyKU discovered: 1934
In 1934, a doctor in Norway named Asbjorn Folling noticed that several mentally retarded patients had a strange odor. He figured out that it was from something called "phenylacetic acid." The patients' urine also had a very high level of a chemical called "phenylketone." That is how the disease got its name, phenylketon-uria.
Folling also thought the disease was most likely inherited, and was the first to suggest using diet to manage it.10
The Child Who Never Grew: 1950
Pearl Buck, best known for her Pulitzer-Prize winning The Good Earth, delighted in the birth of her daughter Carol in 1920, and was heartbroken when she failed to develop normally. Buck was unable to discover what was wrong with Carol, who grew up mentally retarded as a result of PKU. She published The Child Who Never Grew in 1950 with the hope that her experience could help others.11
First supplement: 1951
In 1951, a German professor, Horst Bickel, developed the first PKU formula. The unflavored protein drink provided many amino acids without Phe. For the first time, PKU patients could get most of the nutrition they needed while keeping Phe levels low.
Simple test developed: 1958
Robert Guthrie developed a way to test for high Phe in newborns using a drop of blood. The test was fast, simple and inexpensive, unlike earlier tests.10
PKU newborn screening: 1966
In 1966, hospitals across the country started using the Guthrie test to screen all infants for PKU. By identifying newborns with PKU at birth and managing care from the beginning, mental retardation could at last be avoided.
First drug therapy for PKU: 2007
KUVAN® (sapropterin dihydrochloride) Tablets became the first medicine approved for PKU.
Indication and Fair Balance statements for Consumers
KUVAN® (sapropterin dihydrochloride) Tablets is approved to reduce blood Phe levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU). KUVAN is to be used with a Phe-restricted diet.
Important Safety Information
High blood Phe levels are toxic to the brain and can lead to lower intelligence and decrease in the ability to focus, remember and organize information. Any change you make to your diet may impact your blood Phe level. Follow your doctor’s instructions carefully. Your doctor and dietitian will continue to monitor your diet and blood Phe levels throughout your treatment with KUVAN.
If you have a fever, or if you are sick, your Phe level may go up. Tell your doctor and dietitian as soon as possible so they can see if they have to adjust your treatment to help keep your blood Phe levels in the desired range.
KUVAN is a prescription medicine and should not be taken by people who are allergic to any of its ingredients. Tell your doctor if you have ever had liver or kidney problems, are nursing or pregnant or may become pregnant, have poor nutrition or are anorexic. Your doctor will decide if KUVAN is right for you. Tell your doctor about all the medicines you take.
The most common side effects reported when using KUVAN are headache, diarrhea, abdominal pain, upper respiratory tract infection (like a cold), throat pain, vomiting, and nausea.
prevention: An enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done on the pregnant women to screen the unborn baby for PKU.
It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy, since build-up of this substance will damage the developing baby even if the child has not inherited the defective gene :close look:
Other symptoms may include:
Delayed mental and social skills
Head size significantly below normal
Hyperactivity
Jerking movements of the arms or legs
Mental retardation
Seizures
Skin rashes
Tremors
Unusual positioning of hands
If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body.
Causes: Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.
Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.
Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.
treatment: PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health. “Diet for life” has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy.
Phenylalanine occurs in significant amounts in milk, eggs, and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided.
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.
Taking supplements such as fish oil to replace the long chain fatty acids missing from a standard phenylalanine-free diet may help improve neurologic development, including fine motor coordination. Other specific supplements, such as iron or carnitine, may be needed.
Statistics
KU is found equally in both males and females. The incidence of PKU in the USA among Caucasians is approximately 1 in 10,000 to 15,000. The incidence varies by race and geography.PKU is the result of a mutation of the gene coded with the instructions for the enzyme phenylalanine hydroxylase (PAH) found on the 12th chromosome (location 12q22-q24.2). PAH is produced in the liver and is responsible for breaking down the amino acid phenylalanine and coverting it into tryosine (another amino acid
In order to be born with PKU, each of the parents has to be a carrier of the recessive gene. A baby born with PKU inherits one recessive mutated allele for PKU from each parent. Carriers have no effects of having one mutated gene because the dominant gene masks the recessive gene.
Mutations that cause PKU can occur at a variety of the DNA base pairs. There are over 400 known mutations that cause PKU. Different mutations have different effects because different genotypes result in different phenotypes.
Name and history
KU discovered: 1934In 1934, a doctor in Norway named Asbjorn Folling noticed that several mentally retarded patients had a strange odor. He figured out that it was from something called "phenylacetic acid." The patients' urine also had a very high level of a chemical called "phenylketone." That is how the disease got its name, phenylketon-uria.
Folling also thought the disease was most likely inherited, and was the first to suggest using diet to manage it.10
The Child Who Never Grew: 1950
Pearl Buck, best known for her Pulitzer-Prize winning The Good Earth, delighted in the birth of her daughter Carol in 1920, and was heartbroken when she failed to develop normally. Buck was unable to discover what was wrong with Carol, who grew up mentally retarded as a result of PKU. She published The Child Who Never Grew in 1950 with the hope that her experience could help others.11
First supplement: 1951
In 1951, a German professor, Horst Bickel, developed the first PKU formula. The unflavored protein drink provided many amino acids without Phe. For the first time, PKU patients could get most of the nutrition they needed while keeping Phe levels low.
Simple test developed: 1958
Robert Guthrie developed a way to test for high Phe in newborns using a drop of blood. The test was fast, simple and inexpensive, unlike earlier tests.10
PKU newborn screening: 1966
In 1966, hospitals across the country started using the Guthrie test to screen all infants for PKU. By identifying newborns with PKU at birth and managing care from the beginning, mental retardation could at last be avoided.
First drug therapy for PKU: 2007
KUVAN® (sapropterin dihydrochloride) Tablets became the first medicine approved for PKU.
Indication and Fair Balance statements for Consumers
KUVAN® (sapropterin dihydrochloride) Tablets is approved to reduce blood Phe levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU). KUVAN is to be used with a Phe-restricted diet.
Important Safety Information
High blood Phe levels are toxic to the brain and can lead to lower intelligence and decrease in the ability to focus, remember and organize information. Any change you make to your diet may impact your blood Phe level. Follow your doctor’s instructions carefully. Your doctor and dietitian will continue to monitor your diet and blood Phe levels throughout your treatment with KUVAN.
If you have a fever, or if you are sick, your Phe level may go up. Tell your doctor and dietitian as soon as possible so they can see if they have to adjust your treatment to help keep your blood Phe levels in the desired range.
KUVAN is a prescription medicine and should not be taken by people who are allergic to any of its ingredients. Tell your doctor if you have ever had liver or kidney problems, are nursing or pregnant or may become pregnant, have poor nutrition or are anorexic. Your doctor will decide if KUVAN is right for you. Tell your doctor about all the medicines you take.
The most common side effects reported when using KUVAN are headache, diarrhea, abdominal pain, upper respiratory tract infection (like a cold), throat pain, vomiting, and nausea.
prevention: An enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done on the pregnant women to screen the unborn baby for PKU.
It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy, since build-up of this substance will damage the developing baby even if the child has not inherited the defective gene :close look: