Phenylketonuria

Phenylketonuria – Rare Genetic Condition 

Phenylketonuria or PKU is a rare inherited genetic condition which is present from birth wherein, there is a build-up of phenylalanine in the body which is a natural substance and a building block of protein. Most of the time several parents who are carriers of PKU genes are not aware that they have this mutation since being carriers does not cause any medical problem. In new-borns, the PKU is checked by measuring the phenylalanine levels in the heel prick blood test and babies need to have this test to start with the treatment in its initial stage of life.

In this condition, the body is unable to break down phenylalanine which tends to build up in the blood and brain wherein the high levels of phenylalanine could damage the brain. PKU does not usually show any symptoms if treated in its early stage but if not treated, it could cause damage to the brain and the nervous system which would lead to disabilities in learning, epilepsy, or behavioural difficulties and high levels of phenylalanine could also cause eczema.

The body takes in phenylalanine from the digestion of protein in the gut and when it enters the body, it is either used in making proteins or removed by protein or enzyme known as phenylalanine hydroxylase. Phenylketonuria is a treatable ailment and is found in the protein part of the food that is consumed.

Treatment – Artificial Protein/Amino Acid Supplement 

In PKU victims, phenylalanine hydroxylase does not work properly due to genetic mutation – alteration in their DNA, thus resulting in the rise of phenylalanine levels in the blood as well as other tissues. Treatment would include a low protein diet which means that food contents of high protein food like meat, cheese, eggs, milk and poultry should be avoided. Besides these, the person also needs to control the intake of several other foods, like potatoes and cereals as well.

The diet could be supplemented with artificial protein containing no phenylalanine and this kind of a diet is very effective in lowering the levels of phenylalanine enabling normal growth and development of the child. In addition to this, the person could also take amino acid supplement in order to get all the required nutrients for normal growth and in maintaining good health.A number of specially designed low protein food of popular products like flour, rice, pasta and many more are available for people suffering from PKU to incorporate in their diets most of which are also available on prescription.

Regular Monitoring 

Without treatment in early stages, the person with PKU could develop severe learning disabilities and would need care throughout their lives. If an infant shows a high phenylalanine level, they are immediately started with a low protein diet and amino acid supplements with regular monitoring of phenylalanine levels in the blood. This is done by collecting blood from a finger prick onto a special card and sent to a laboratory. So long as the PKU victim maintains a low protein diet, the phenylalanine level tends to stay within certain limits and the person can maintain a normal life.