What is a Phenyl Ketonuria?

April 21 22:30 2019 Print This Article

It is defined as a disorder in which there is an inability of the human body to break amino acids such as phenyl alanine. One needs amino acids to make protein. This amino acid is not made in the body and is taken from the outside diet.

What are the signs and symptoms of Phenyl ketonuria?

It includes the seizures, small heads, lots of energy and jerking motions. There is a foul smell in the urine. There is a light coloration and a pale skin with blue eyes and blonde hair. One can also observe few rashes.

How Phenyl ketonuria can be diagnosed?

It includes the use of visual examination and a patient history.

How Phenyl ketonuria can be treated?

It includes that there is no specific treatment for this disorder. One must identify the cause for it and must act against it. The children with this disorder must be given a special diet which does not contain this amino acid. They must avoid egg, meat and milk which is rich in phenyl alanine. One cannot also go for artificial sweetener known as aspartame which is used to give flavor and is rich in few amino acids like phenyl alanine. So, one must avoid it. One must take a lot of vitamins to make out for phenyl alanine like B6 and B12.

The babies with this disorder are given with a food formula known as Lofenelac. It has all the dietary supplements except phenyl alanine. There are also other formulas which are required for older children as well as for adults. They are low in protein as well as flour. The women who are pregnant and suffer from this disorder have to follow this diet with strict rules and regulations. Otherwise the babies who are born would suffer from the birth defects. They may also suffer from mental insufficiency. The babies of mother with this diet are healthy and are not certain to develop this disorder. It is a genetic disorder so all of it depends on the genes. The carrier of these diseases also plays a crucial role. They cannot be detected. The children with this disorder have small heads, lots of energy and jerking motions. There is a light coloration and a pale skin with blue eyes and blonde hair. So, they must be protected from the sun light.

How Phenyl ketonuria can be prevented?

It includes the avoidance of any irritating factor. One must avoid alcohol, tobacco and cigarette smoking. One must also avoid egg, meat and milk which is rich in phenyl alanine.

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