Rare PKU Metabolic Disorder Every Newborn is Screened

The Internet is a fantastic tool, bringing a wealth of simplified information to our homes with only a few finger strokes. When looking understands the complexity of the human body and well-being of a loved one, the articles that you fall can be extremely worrying.

Our daughter was born with a metabolic disorder that explained as phenylketonuria. Races mind at times like this. That night, countless hours on the computer reading articles generated by Google provoked strong emotions; mainly anxiety and fear. We consider ourselves extremely unlucky. Life was unfair.

Stories and posts on forums say those whose lives have been severely affected by the disease, their bodies unable to process phenylalanine amino acid. R
estricted diet with very low protein intake, its days were marked by the need to take supplements in the form of a protein shake. This drink would provide all nine essential amino acids necessary for a physical and neurological development. Those PKU not adhere to their diet experienced the development of symptoms such as depression, ADHD syndrome and, in extreme cases, deep brain irreversible damage. Modern products should ensure that, with the latter for early detection does not happen. There are many people who have "full blown PKU" which, with proper care, can lead a relatively normal life.

What is important to note is that there are varying degrees of disease severity. My experience has been that such information is not provided to infants of parents, doctors, apparently unable to predict with certainty the behavior of the disease in the first year of a child's life. Know the different types of PKU and potential results in each case, however, it may have reduced the level of concern and anxiety for us as parents.

S
weet PKU (sometimes known as variant PKU) is a diagnosis by itself, the key is that the defective gene is capable of making a minimal amount of phenylalanine. The phenylalanine levels of patients will be closely monitored to ensure that they remain within an acceptable range. Magazines reflect that, instead of relying on the diet, patients may be able to come and go on the diet that the levels vary. Medical opinion, however, seems to be that the diet must be respected even in cases of "PKU light." The reason for this is to reduce the incidence of adverse clinical effects caused by variations in phenylalanine levels.

In my opinion, this is a condition that affects our daughter. It is known as "non-PKU hyperphenylalaninemia" the PCU no apparent name to define this disorder beyond the "PCU family. It is the mildest form of phenylalanine intolerance, and therefore has the lowest risk intellectual disabilities. Monitoring is recommended, but dietary restrictions are often unnecessary.

The doctors told us that experience, the gene's ability to convert phenylalanine remains constant throughout life. While the patient will never really recover, the state does not worsen over time. Phenylalanine levels fluctuate depends on the diet. Regular monitoring is essential. Our daughter is only 11 months and is still at a critical stage of development. We remain encouraged by his progress to date.

Load disqus comments

0 komentar