fenilcetonuria ( ul keetone Yu Fen – REE -AH or PKU) is a hereditary metabolic disorder in which the body can not completely destroy the protein (amino acid) phenylalanine this is due to the phenylalanine hydroxylase enzyme is insufficient.Because of this, phenylalanine accumulates in the bodys cells and causes damage to the nervous system.
phenylketonuria is a disease that can be treated can be detected by a simple blood test .In the United States, all newborns should be screened for PKU in the metabolic and genetic screening composition performed on all newborns .All newborns in the United Kingdom, Canada , Australia , New Zealand , Japan , Western and most of Eastern Europe as well as in many other countries around the world , are also tested .
( PKU screening in preterm infants is different and more difficult for several reasons . )
Each year10,000 15 .000 babies are born with this disease in the United States andPhenylketonuria it occurs in both men and women of all ethnic groups ( although it is more common in people of Northern European descent and Native American ,)
SYMPTOMS
The child is born with PKU will normally be developed during the first months. If symptoms is not treated are beginning to develop in the tri-six months and may include :
- developmental delay
- convulsions
- very dry skin , eczema , and rashes
- a distinctive mouse or musty smell of urine ,respiration and sweat
- light color , light hair or blond
- Irritability , anxiety , hyperactivity
- to mental disorders or behavior in particular,Later in life
phenylketonuria is diagnosed by a blood test, usually within the framework of the detection testing procedure, the newborn data during the first days of life.If FSA is present, the level of phenylalanine will be higher than normal in the blood.
The test is very precise if it is done when the child is greater than 24 hours but less than seven days.If the child is proof less than 24 hours, it is recommended that the test is repeated when the baby is one week . As noted above , premature babies should prove otherwise for various reasons, including delays in the dressing room.
Treatment
From phenylketonuria problem of phenylalanine of destruction, the child receives a special diet that is extremely low in phenylalanine.
First , do not use phenylalanine formula baby with special low ( Lofenalac ) .
As the child grows , foods low in phenylalanine are added to the diet, but not allow protein-rich foods like milk , eggs , meat and fish .The artificial sweetener aspartame ( NutraSweet , Equal) contains phenylalanine , so diet drinks and foods are avoided containing aspartame.It is likely that marks the spot in soft drinks such as Coca -Cola Light , which indicate that the product should not be used by people with phenylketonuria .
Some people can reduce their restrictions on the diet, as they get older.Blood tests are needed to measure levels of phenylalanine , and may be adjusted diet if the level is too high .In addition to a limited diet, some people can take kuvan (sapropterin) medications to help reduce phenylalanine levels in the blood.
Monitoring
already mentioned , blood tests are used to control people with phenylketonuria .Currently , guidelines recommend that blood phenylalanine concentration reference should be between 120 and 360 uM for people with FKOY all ages . Sometimes the limit , reaching 600 M allowed for the elderly.Pregnant women, however, are required to comply with their diet more strictly , and recommended the maximum level of 240 uM .
Studies observe the line (the number of people who follow your diet and comply with these is 88 percent for children from birth to age four, but only 33 percent of those 30 And older.
The paper of genetics
Those who inherit only one mutation of the gene do not develop FSA , but can pass the disease to their children ( to be the bearer .) If both parents are carriers of the gene have about 25 percent chance of having a child with PKU , 25 -protsentny chance that your child will not develop phenylketonuria or be a carrier , and 50 -PROTSENTNY Possibility that your child will also be a carrier of the disease.
Once the FSA is diagnosed in a child, that child must follow a FCI feeding plan throughout his life.
FCU during pregnancy
young women with phenylketonuria who do not eat phenylalanine restricted diet have a high level of phenylalanine , when they stay pregnant .This can lead to serious medical problems, known as PKU syndrome Child, such as mental retardation, low birth weight, congenital heart defects or other birth defects .However, if young woman and resume a low-phenylalanine diet for at the least 3 months before pregnancy , and continues on a diet during pregnancy , FCI syndrome can be prevented .In other words, a healthy pregnancy possible that women with PKU , always plan ahead and carefully control their diet during pregnancy .
Studies
researchers are looking for ways to correction of phenylketonuria ,such as the replacement of a defective gene responsible for the disorder or creating genéticamentepara enzyme replace the missing one .Uchenye also the study of chemical compounds such as tetrahydrobiopterin ( BH4 ) and large neutral amino acids , such as methods for treating FCI by reducing blood levels of phenylalanine .
Addictive
Combat With complicated fkoy and it requires a lot of commitment, since it is a task of a lifetime.The support can be beneficial and there are many support groups and support from the community available in which people can interact with others against phenylcetonuria and emotional support, and stay informed about the latest investigations.
There are several organizations working to support people with PKU and fund research into better treatment.Some of these include the National Society of Phenylcetonuria , in National Alliance FCI (Part of the Nord Organization, the National Organization of Rare Diseases and FLE Fund In addition to financing research, these organizations offer help, which can go from aid for the acquisition of a special formula, necessary for children with FKOY to provide information,Help people learn and fight their way to understanding the FCI and what it means in Ihzhizn.
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