Phenylketonuria is an inherited disease that increases the level of a substance called phenylalanine in the blood. Phenylalanine is the building block of dietary proteins. Phenylalanine is found in all proteins and some artificial sweeteners.

If phenylketonuria is left untreated, phenylalanine can reach harmful levels in the body, causing intellectual disability and many serious health problems.

Phenylketonuria Symptoms

Babies with phenylketonuria are completely normal at birth. If the diagnosis is not made and precautions are not taken, feeding difficulties, vomiting and skin rashes can be seen in the following months.

People with phenylketonuria usually have an IQ below 50. As a result of the interaction of phenylalanine with the melanin pigment of these babies, their skin, eye and hair colors become lighter.

If the disease is not treated, excessive phenylalanine accumulation in the brain can cause neurological signs and mental retardation.

Mild or severe symptoms of phenylketonuria include:

• Fair skin and blue eyes.
• Odor in breath, skin or urine.
• Behavioral, emotional and social problems.
• Abnormally small head.
• Hyperactivity.
• Eczema.
• Mentally disabled.
• neurological problems.
• Psychological disorders.

Phenylketonuria Treatment

Treatment of phenylketonuria is a phenylalanine-restricted diet from birth. Studies continue within the scope of research on other enzymatic treatments and gene therapies.

Treatment of phenylketonuria is a process that continues from infancy to the end of life.