Uncontrolled phenylketonuria
Uncontrolled Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited metabolic disorder that affects the body’s ability to process the amino acid phenylalanine. If uncontrolled, the disease can cause varying degrees of mental retardation. PKU is usually detected through newborn screening and can be controlled through diet.
The body requires phenylalanine to form proteins. People with PKU lack the enzyme needed to break down phenylalanine. As a result, phenylalanine builds up in the blood and is eventually converted to phenylpyruvic acid. Both substances are toxic to the nervous system, particularly the developing brain, so PKU must be treated early.
Signs and Symptoms
There are some classic signs of PKU that are usually noticed during infancy and early childhood. These include:
- Fairly light skin color and light-colored eyes
- Musty or mouse-like odor in the breath, urine or skin
- Vomiting
- Poor appetite
- Slowed or poor growth
- Seizures
- Musty smell of earwax
- Developmental delays
Diagnosis and Treatment
PKU is diagnosed through a blood test performed shortly after birth. Once the diagnosis is confirmed, the child will need a low-phenylalanine diet to reduce the amount of phenylalanine in their body. This diet will need to be followed for life. It should be overseen by a physician specialist and nutritionist to ensure the child is getting the right nutrients.
Additional treatments may include supplements, medication, and regular blood tests to monitor levels of phenylalanine. Treatment should begin as soon as possible after diagnosis to avoid irreversible brain damage.
Conclusion
Phenylketonuria (PKU) is a serious disorder that can have significant consequences if not treated. If a baby is diagnosed with PKU, it is important that they begin treatment to control the symptoms right away. The diet and other treatments can help ensure the child is healthy and prevent any lasting effects from the disorder.
