About Phenylketonuria (PKU) -Genetic disorder.?
I tried to look it up online, but I just couldn't understnad what they were saying.
I want to know about Phenylketonuria (PKU)
-description about the disorder.
-treatment
-How the treatment works.
-what are the symptoms of the disease?
oh plz and thank u!
Answers:
can hopefully answer some of those questions..
disoder is caused by a build up of phenylalanine due do a defective enzyme (phenylalanine hydroxylase) which is supposed to break the phenylalanine down. As the phenylalanine builds up it is forced into other enzymatic pathway to produce either: phenylpyruvate, phenyllactate or phenylacetate depending on the pathway.
one of these products, Phenylpyruvate, inhibits the conversion of pyruvate to AcCoA which is important in the body cell acquiring energy. The inhibition of this conversion leads to the anticlimax of normal brain development and major brain function defect will result during and after the development of the individuals brain and central nervous system.
Hopefully that's not too frozen to understand, and sorry that's all I've been skilled about so far :) Source(s): Medical student.
Previous responses are good.
Symptoms: by the time symptoms are renowned it's too late to prevent mental retardation. Many are fair skinned blondes because of the inability to convert phenylalanine to tyrosine which in turn is converted to the pigment melanin. Developmental obstruction progresses rapidly but insidiously to mental retardation and seizures. Some patients exhibit a musty odor, usually unappreciated by observers. Ferric chloride will incentive the urine to turn a green color.
Affected individuals were formerly picked up because there was a previously artificial sibling. Nowadays all infants undergo screening for several to numerous (depending on the state) metabolic diseases. If an infant is discovered to have PKU it is put on a low phenylalanine diet. There have to be some PA in the diet because it is an essential amino acid. A special formula has be developed - Lofenac. Older children are put on low-phenylalanine foods, essentially vegetarian. It is a rather ill-tasting diet, and there is significant non-compliance. In centers where on earth IQ testing is performed, it relates rather powerfully with blood phenylalanine levels. My limited experience beside PKU is that even well-controlled children have difficulty in math, especially if they go bad the diet after age six, as some do. Some authorities permit going off the diet at six, others later, and still others contend that you should remain on the diet for natural life.
It is extremely difficult for women with PKU who are pregnant to maintain blood levels low adequate to have a normal child. Mental retardation is an unfortunate consequence. (This skill is at least 10 years old. There may be new notes since then.)
PKU is a genetic disorder characterized by the bodies inability to break down an amino acid call Phenylalanine. Phenylalanine is an essential amino acid, it is a building block of protein. In most people Phenylalanine is converted into another amino acid call Tyrosine. People who have PKU have a mutation on chromosome 12 that makes the enzyme Phenylalanine Hydroxolase (PAH) defective. PAH is the enzyme that breaks Phenylalanine down, so because it is deficient in those who have PKU it does not break the Phenylalanine down.
Because the Phenylalanine is not broken down it can become poisonous to the body. So the treatment is a low protein diet that restricts how much Phenylalanine someone with PKU consumes.
The treatment consists of limiting foods such as meat, dairy, beans, nuts, and most grain products. How much these foods are limited depends on the lenient and how much Phenylalanin their bodies can break down on it's own. Because the diet is so limited people with PKU usually subsititute their diet beside specially made low protein foods. These low protein foods are made to imitate foods such as bread, pastas, bake goods, and meat, which they normally would not beable to eat becuase of the protein content, but these special low protein foods have the protein taken out.
People born beside PKU must also drink a metabolic formula. The formula can come in many different forms such as a drink mix similar to baby formula, pills, tablets, bar similar to granola bars etc. They must take this throughout their life. This formula give them the nutrients and vitamins they are missing because their diets are so limited. It also gives them the amino acid Tyrosine which their bodies cannot spawn because they cannot convert Phenylalanine into Tyrosine.
Regular blood tests much be performed to monitor how much Phenylalanine is in the blood. This is done similarly to how diabetics check their blood sugar, a finger poke, but more blood is required and a monitoring meter have not been created for PKU yet, so the blood samples must be sent to a lab to own them read.
If the PKU diet is follow there are absolutely NO SYMPTOMS! Those with PKU who follow their diet can head happy, healthy, and normal lives. If an infant is not diagnosed and put on the diet shortly after birth issues will arise. Infants appear terrifically normal at birth (and continue to be very everyday if they begin the diet). If they do not start the diet they may begin to vomit, they will not develop at a normal speed, they could appear 'out of it' as some speak, irritable and eventually seizures and mental retardation could occur. Later in life span if those who have PKU do not adhere to the diet they could experience a lack of strength, balance, and concentration, a drop in IQ, ADD/ADHD symptoms (many children with PKU who do not hold propper blood levels are falsely diagnosed with ADD/ADHD), vomitting, irritablity, mood swings etc.
Again, if the diet is followed those who hold PKU are perfectly normal. Although people near PKU do tend to have lighter hair and skin compare their their siblings. Blonde hair and blue eyes is greatly common in people who own PKU.
Hope this helps! Source(s): I have PKU and am loving life right very soon. This is basic knowledge that I have gain about my disorder while growing up with it.
Here is a link to a good quantifiable paper on PKU.
http://www.zuidencomm.nl/njm/getpdf.php?…
Here is another good paper. These are experimental research papers, so I hope they are not too complicated for you.
http://jn.nutrition.org/cgi/content/full…
Best wishes and good luck.
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I want to know about Phenylketonuria (PKU)
-description about the disorder.
-treatment
-How the treatment works.
-what are the symptoms of the disease?
oh plz and thank u!
Answers:
can hopefully answer some of those questions..
disoder is caused by a build up of phenylalanine due do a defective enzyme (phenylalanine hydroxylase) which is supposed to break the phenylalanine down. As the phenylalanine builds up it is forced into other enzymatic pathway to produce either: phenylpyruvate, phenyllactate or phenylacetate depending on the pathway.
one of these products, Phenylpyruvate, inhibits the conversion of pyruvate to AcCoA which is important in the body cell acquiring energy. The inhibition of this conversion leads to the anticlimax of normal brain development and major brain function defect will result during and after the development of the individuals brain and central nervous system.
Hopefully that's not too frozen to understand, and sorry that's all I've been skilled about so far :) Source(s): Medical student.
Previous responses are good.
Symptoms: by the time symptoms are renowned it's too late to prevent mental retardation. Many are fair skinned blondes because of the inability to convert phenylalanine to tyrosine which in turn is converted to the pigment melanin. Developmental obstruction progresses rapidly but insidiously to mental retardation and seizures. Some patients exhibit a musty odor, usually unappreciated by observers. Ferric chloride will incentive the urine to turn a green color.
Affected individuals were formerly picked up because there was a previously artificial sibling. Nowadays all infants undergo screening for several to numerous (depending on the state) metabolic diseases. If an infant is discovered to have PKU it is put on a low phenylalanine diet. There have to be some PA in the diet because it is an essential amino acid. A special formula has be developed - Lofenac. Older children are put on low-phenylalanine foods, essentially vegetarian. It is a rather ill-tasting diet, and there is significant non-compliance. In centers where on earth IQ testing is performed, it relates rather powerfully with blood phenylalanine levels. My limited experience beside PKU is that even well-controlled children have difficulty in math, especially if they go bad the diet after age six, as some do. Some authorities permit going off the diet at six, others later, and still others contend that you should remain on the diet for natural life.
It is extremely difficult for women with PKU who are pregnant to maintain blood levels low adequate to have a normal child. Mental retardation is an unfortunate consequence. (This skill is at least 10 years old. There may be new notes since then.)
PKU is a genetic disorder characterized by the bodies inability to break down an amino acid call Phenylalanine. Phenylalanine is an essential amino acid, it is a building block of protein. In most people Phenylalanine is converted into another amino acid call Tyrosine. People who have PKU have a mutation on chromosome 12 that makes the enzyme Phenylalanine Hydroxolase (PAH) defective. PAH is the enzyme that breaks Phenylalanine down, so because it is deficient in those who have PKU it does not break the Phenylalanine down.
Because the Phenylalanine is not broken down it can become poisonous to the body. So the treatment is a low protein diet that restricts how much Phenylalanine someone with PKU consumes.
The treatment consists of limiting foods such as meat, dairy, beans, nuts, and most grain products. How much these foods are limited depends on the lenient and how much Phenylalanin their bodies can break down on it's own. Because the diet is so limited people with PKU usually subsititute their diet beside specially made low protein foods. These low protein foods are made to imitate foods such as bread, pastas, bake goods, and meat, which they normally would not beable to eat becuase of the protein content, but these special low protein foods have the protein taken out.
People born beside PKU must also drink a metabolic formula. The formula can come in many different forms such as a drink mix similar to baby formula, pills, tablets, bar similar to granola bars etc. They must take this throughout their life. This formula give them the nutrients and vitamins they are missing because their diets are so limited. It also gives them the amino acid Tyrosine which their bodies cannot spawn because they cannot convert Phenylalanine into Tyrosine.
Regular blood tests much be performed to monitor how much Phenylalanine is in the blood. This is done similarly to how diabetics check their blood sugar, a finger poke, but more blood is required and a monitoring meter have not been created for PKU yet, so the blood samples must be sent to a lab to own them read.
If the PKU diet is follow there are absolutely NO SYMPTOMS! Those with PKU who follow their diet can head happy, healthy, and normal lives. If an infant is not diagnosed and put on the diet shortly after birth issues will arise. Infants appear terrifically normal at birth (and continue to be very everyday if they begin the diet). If they do not start the diet they may begin to vomit, they will not develop at a normal speed, they could appear 'out of it' as some speak, irritable and eventually seizures and mental retardation could occur. Later in life span if those who have PKU do not adhere to the diet they could experience a lack of strength, balance, and concentration, a drop in IQ, ADD/ADHD symptoms (many children with PKU who do not hold propper blood levels are falsely diagnosed with ADD/ADHD), vomitting, irritablity, mood swings etc.
Again, if the diet is followed those who hold PKU are perfectly normal. Although people near PKU do tend to have lighter hair and skin compare their their siblings. Blonde hair and blue eyes is greatly common in people who own PKU.
Hope this helps! Source(s): I have PKU and am loving life right very soon. This is basic knowledge that I have gain about my disorder while growing up with it.
Here is a link to a good quantifiable paper on PKU.
http://www.zuidencomm.nl/njm/getpdf.php?…
Here is another good paper. These are experimental research papers, so I hope they are not too complicated for you.
http://jn.nutrition.org/cgi/content/full…
Best wishes and good luck.
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