Top 8 Symptoms of Phenylketonuria

What is Phenylketonuria: Phenylketonuria is  an inherited metabolic disorder that causes intellectual and developmental problems if left untreated. In phenylketonuria, the body cannot process a portion of the protein called phenylalanine, which is in almost all foods. If the phenylalanine level gets too high, the brain can be damaged.

Phenylalanine is an essential amino acid. Dietary phenylalanine not used for protein synthesis is normally broken down via the tyrosine pathway. Unable to follow the natural path, phenylalanine accumulates in the tissues and gives rise to some derivatives, including phenylpyruvic acid, which appears in large amounts in the urine.

As with all genetic disorders, PKU can show great genetic and clinical variability. The phenylalanine hydroxylase gene occupies a single locus with more than 400 identified mutations that contribute to numerous genotypic combinations and, consequently, to great clinical heterogeneity. These mutations also contribute to biochemical heterogeneity.

What Causes Phenylketonuria:  This disease  is passed from parents to children and is due to a genetic mutation. Not necessarily the child’s parents suffer from this disease. In fact, they have the defective gene that ends up passing it on to the baby who has the disease . If only one of them has this gene, the risk of it being transmitted to the child is null.

Babies suffering from this disease  lack an enzyme which is known as phenylalanine hydroxylase which is needed for phenylalanine to be broken down. Phenylalanine is a very important amino acid as it is an integral part of our body’s proteins.

If the human being does not have this enzyme, there will be a growth in the body of the levels of phenylalanine and two other substances that are associated with it. These substances harm the central nervous system and can also damage the brain.

Symptoms of Phenylketonuria:

• Skin sores similar to eczema
• characteristic body odor
• nausea and vomiting
• Aggressive or self-aggressive behavior
• hyperactivity
• Mental retardation, usually severe and irreversible; convulsions

However, all these symptoms can be avoided and only manifest when the adapted diet with foods low in phenylalanine is not followed.
In addition, as soon as the diagnosis of Phenylketonuria  is made, the baby must be accompanied by a pediatrician and nutritionist specialized in breastfeeding so that the disease  does not cause damage and the baby develops normally like any other child.

Treatment of Phenylketonuria: The most effective treatment for Phenylketonuria  is a special diet, which helps to control the amount of phenylalanine consumed (some phenylalanine is necessary for growth and development). People with Phenylketonuria who follow this diet from birth or shortly thereafter develop normally and often have no symptoms.