-What is it?
Phenylktonuria (PKU) is a rare, inherited disease that results in mental retardation and or neurological problems and it increases a substance called phenylalanine in the blood.
- History of PKU
Phenylktonuria (PKU) is a rare, inherited disease that results in mental retardation and or neurological problems and it increases a substance called phenylalanine in the blood.
- History of PKU
In 1934, a doctor named Folling that lived in Norway noticed that several mentally retarded patients had a strange odor. He figured out that it was from something called "phenlylacetic acid". The patients urine also had a very high level of a chemical called "phenylketone." This is how the diesease got its name Phenylkton-uria. Folling also thought that the disease was most likely inherited , and his first suggestion to fixing it was a diet.
-Symptoms
Symptoms most likely develop within a few months of birth. Early symptoms of PKU are a musty odor from the skin,hair, and urine ; vomiting and diarrhea leading to weight loss ; irritability ; dry skin or skin rashes. PKU also affects the brian and some symptoms become severe after about 8 weeks of age. Which include screaming episodes, repetictive rocking, heading banging and are biting (which is common in older children), loss of skills and ablilities, seizures, and growth and development delays.
- How is PKU caused?
You are born with a deficiency on an enzyme called phenylalanine hydroxylase that normally converts the essentail amino acid (phenylalanine) to another amino acid (tyrosine). If the conversion fails then it results in a build up of phenylalanine. Basically meaning you're body can't process the protien called phenylalanine that is secretly found in many foods.
PKU is passed down through a family tree, and most parents don't realize that they are carriers of this disease. They pass genes called autosomal recessive to newborns, without knowing each parents carries one copy of the mutated gene, called phenylketonuria. The reasoning of how some people get the gene and others do no still remains a mystery.
-How is it diagnosed?
PKU is diagnosed when a doctor pricks blood from a newborn. A cut out from the blood spot is placed on a plate of bacteria that can't grow without phenylalanine. If a baby has normal levels of phenylalanine then nothing happens to the bacteria growth because there's not enough phenylalanine. But if the baby's levels are too high then the phenylalanine feeds the bacteria that is around the bloodpot, and a halo will begin to form around it. The bigger the halo, the more phenylalanine.
-How is it treated?
Treatment begins within the first week of a baby being born. Treatments include diet modifications and strong restrictions. Although the diet is strict following it will prevent abnormal growth and unusual development. This diet is not only during childhood, but it had to continue for a lifetime.
-How can it be prevented?
Wel, it can't be prevented because it's a genetic mutation. But some of the symptoms and snydroms can be prevented by dieting.
-Current research toward PKU.
The only advice there is, is to continue on with the diet. Which is to avoid high protien foods such as meat, fish, poultry, eggs, cheese, milk, dried beans, and peas. The PKU diet has is mainly focused on eating vegetables, fruits, and whole grains.
Organization supporting PKU : )
- - > http://www.pkunews.org/support/PKUAlliance.htm
Resources: http://www.livestrong.com/article/28134-causes-phenylketonuria-pku/ , http://www.ygyh.org/pku/diagnosis.htm, http://www.thedietchannel.com/Phenylketonuria.htm,
-Symptoms
Symptoms most likely develop within a few months of birth. Early symptoms of PKU are a musty odor from the skin,hair, and urine ; vomiting and diarrhea leading to weight loss ; irritability ; dry skin or skin rashes. PKU also affects the brian and some symptoms become severe after about 8 weeks of age. Which include screaming episodes, repetictive rocking, heading banging and are biting (which is common in older children), loss of skills and ablilities, seizures, and growth and development delays.
- How is PKU caused?
You are born with a deficiency on an enzyme called phenylalanine hydroxylase that normally converts the essentail amino acid (phenylalanine) to another amino acid (tyrosine). If the conversion fails then it results in a build up of phenylalanine. Basically meaning you're body can't process the protien called phenylalanine that is secretly found in many foods.
PKU is passed down through a family tree, and most parents don't realize that they are carriers of this disease. They pass genes called autosomal recessive to newborns, without knowing each parents carries one copy of the mutated gene, called phenylketonuria. The reasoning of how some people get the gene and others do no still remains a mystery.
-How is it diagnosed?
PKU is diagnosed when a doctor pricks blood from a newborn. A cut out from the blood spot is placed on a plate of bacteria that can't grow without phenylalanine. If a baby has normal levels of phenylalanine then nothing happens to the bacteria growth because there's not enough phenylalanine. But if the baby's levels are too high then the phenylalanine feeds the bacteria that is around the bloodpot, and a halo will begin to form around it. The bigger the halo, the more phenylalanine.
-How is it treated?
Treatment begins within the first week of a baby being born. Treatments include diet modifications and strong restrictions. Although the diet is strict following it will prevent abnormal growth and unusual development. This diet is not only during childhood, but it had to continue for a lifetime.
-How can it be prevented?
Wel, it can't be prevented because it's a genetic mutation. But some of the symptoms and snydroms can be prevented by dieting.
-Current research toward PKU.
The only advice there is, is to continue on with the diet. Which is to avoid high protien foods such as meat, fish, poultry, eggs, cheese, milk, dried beans, and peas. The PKU diet has is mainly focused on eating vegetables, fruits, and whole grains.
Organization supporting PKU : )
- - > http://www.pkunews.org/support/PKUAlliance.htm
Resources: http://www.livestrong.com/article/28134-causes-phenylketonuria-pku/ , http://www.ygyh.org/pku/diagnosis.htm, http://www.thedietchannel.com/Phenylketonuria.htm,
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