How is PKU inherited?

PKU is a genetic condition passed on by parents who are carriers; they will not have any symptoms of the condition. When both parents are carriers, there is a 25% risk in each pregnancy that the child will inherit the condition, a 50% risk that the child will become a carrier, and 25% chance that the child will be unaffected.

Symptoms

Symptoms of phenylketonuria include seizures, tremors, or trembling and shaking, stunted growth, hyperactivity, skin conditions such as eczema and a musty odor of their breath, skin, or urine. The condition is highly serious and without treatment, patients can have delayed development, behavioral, emotional and social problems, psychiatric disorders and intellectual disability.

Diagnosis

In most countries, PKU is diagnosed as part of typical newborn blood spot screening. If PKU is confirmed, treatment starts immediately. PKU can be diagnosed as severe classic PKU, mild PKU or hyperphenylalaninaemia (HPA), a very mild mutation that often does not require treatment.

Treatment

There is no medical cure for PKU, but patients’ quality of life can be improved significantly with a range of dietary and treatment options.

Traditionally, PKU has been managed through a strictly controlled diet that avoids high protein foods and controls the intake of other foods, alongside specialized amino acid food supplements, such as Avonil powder and tablets.

New advances in PKU research have enabled a much more liberal diet plan for PKU patients. With Prekulab’s Large Neutral Amino Acid-based products PreKUnil and NeoPhe, it is possible to get up to 80% of your protein intake from natural protein, and the rest from low protein food and supplements. These clinically-proven products are available in a tablet or powder form and offer a unique way to reduce blood Phe and protect the brain from its effects.