Uncontrolled phenylketonuria

What is Uncontrolled Phenylketonuria?

Uncontrolled Phenylketonuria (PKU) is a rare, inherited metabolic disorder in which the body is unable to process phenylalanine (Phe), an amino acid found in most proteins, including those from food. In people with PKU, the amino acid accumulates to toxic levels in the blood. This can lead to severe mental and physical disabilities, and even death if untreated.

For those with PKU, maintaining a strict diet that avoids foods that are high in protein is essential for preventing adverse health effects. Additionally, people with PKU must monitor their dietary intake of phenylalanine and take special formulations of the amino acid in order to maintain necessary levels.

What are the Symptoms of Uncontrolled Phenylketonuria?

If untreated, children with PKU typically experience decreased intellectual functioning, delayed development, and behavioral difficulties. Additionally, they may exhibit lighter coloring of skin and hair compared to those without the disorder. Symptoms also include:

  • Musty odor on the breath, skin, or urine.
  • Seizures.
  • Hyperactivity.
  • Developmental delay.
  • Vomiting.
  • Unusual skin pigmentation.
  • Mental retardation.

Screening and Diagnosis of Uncontrolled Phenylketonuria

Screening for PKU typically takes place when a baby is a few days old or shortly after birth. In some countries, all babies are screened for the disorder. If the screening test is positive, a blood test is used to confirm the diagnosis. A positive diagnosis of PKU will require lifelong adherence to a low protein diet and the use of dietary supplements to prevent complications.

Treating Uncontrolled Phenylketonuria

Treatment for individuals with uncontrolled Phenylketonuria revolves around dietary management and the use of supplements. People with this disorder must reduce dietary intake of proteins that are high in the amino acid phenylalanine. In addition, patients must take a special formula containing controlled levels of phenylalanine in order to maintain the recommended level in the blood.

In addition to dietary management, there are medications available to help control the metabolism of phenylalanine. Some common treatments for PKU include Kuvan, a FDA-approved drug that helps to reduce levels of Phe in the blood, and sapropterin dihydrochloride, which can also help to lower Phe levels.

Living with Uncontrolled Phenylketonuria

Managing PKU effectively involves lifestyle modifications, such as adhering to a low protein diet, avoiding sources of phenylalanine, and taking supplements as needed to maintain optimum health. It is also important to be mindful of food labels. High amounts of phenylalanine can be found in certain processed foods and should be avoided.

Living with PKU can be challenging, but with proper management, individuals can lead healthy lives. It is important to have regular follow-up visits with a doctor to maintain appropriate treatment and monitor any changes in symptoms. Additionally, it is important to stay up-to-date with the latest research and advances in the treatment of this disorder.