Phenylketonuria

Phenylketonuria is a condition where the human body fails in utilising phenylalanine which is an essential amino acid. The essential amino acids are those which human body gets from the food that is eaten.
Phenylketonuria is inheritable in nature.
In the normal cases of PKU, the person suffers from the complete or partial deficiency of the enzyme, phenylalanine hydroxylase which helps in the breaking down of the phenylalanine. The deficiency of phenylalanine hydroxylase leads to the accumulation of the phenylalanine and the chemicals that result when it is broken down.
In normal cases, the level of phenylalanine is 1mg per dl. In cases of persons who have classic PKU, the level of phenylalanine ranges between 6 mg per dl to 80 mg per dl. But in severe cases, the level can even go up to 30 mg per dl.
The Caucasian as well as oriental origins are more affected with this condition than the Afro-Americans.
Causes
The causes of Phenylketonuria as well as other hyperphenylalaninemia are due to the inheritance of the genes from both the parents. This condition is known as recessive inheritance.
If a person has only one trait of this condition, the person is known by the name of carrier. They do not exhibit any symptoms of this condition.
Symptoms
Even though the babies who have inherited this condition from their parents seem to be normal as soon as they are born, they normally have a fairer complexion as well as eyes which reflect a deeper blue than the other members of their families.
If the condition is not identified and left untreated, then the infants’ exhibit symptoms like vomiting, a feeling or irritation, rashes similar to those of eczema as well as the urine will have a mousy odour.
In some cases, the children express problems related to the abnormal functioning of the nervous system like increased toning of the muscles as well as the reflexes of the muscles tendons will be more active.
As they grow up, they will develop fatal disorders related to the brain like seizures as well as complete mental retardation.
Some other symptoms which can be seen in children are microcephaly or presence of a smaller than normal head. The cheek will be prominent. The upper jaw will be prominent. The teeth will be spaced widely. The enamel of the tooth will have poor development as well as the growth of the body will be decreased.
Treatment
The babies who are suspected to have this condition are screened for their phenylalanine levels in the blood when they are three days old.
If the baby is diagnosed with PKU, the treatment is aimed at maintaining the level of phenylalanine. The child must avoid foods that are rich in protein contents. These include fish, meat, poultry, cheese, eggs, milk, peas as well as dried beans.
These should be substituted with starches, vegetables, fruits, cereals as well as any milk substitute.
The level of phenyalanine should be monitored throughout the life of the person.