Every parent will agree that most babies look healthy and normal at birth. But even the healthiest looking babies can have certain problems that are not evident on a visual analysis. Therefore, newborns are tested for various conditions including metabolic disorders. A metabolic disorder is one that intervenes in the normal process of breakdown and absorption of nutrients. Left untreated, these disorders can impact the baby’s development, can cause damage to vital organs and even death.
By identifying these disorders at birth, doctors are able to commence treatment as soon as possible. In a number of conditions, simply making lifestyle and dietary changes will enable the child to cope with the disorder and live a healthy life.
Phenylketonuria (PKU) is one such rare disorder that affects metabolism. Babies with PKU fail to synthesize necessary enzymes that breaks down phenylalanine-an amino acid found in protein, causing phenylalanine build up, thus leading to severe brain damage. There’s no cure for this disease however, with specific dietary modification and medications (if needed) the baby can grow to a healthy adult.
Newborn Screening (NBS) Test for PKU; timeline
Within the first 24 to 48 hours of the baby’s birth, the healthcare practitioner, collects blood from the baby’s heel by the heel prick method. The blood is then integrated in a specially designed filter paper. The sample is then sent to the laboratory for analysis and the findings are shared with the parents.
Alternatively, if the baby is born outside a hospital, NBS tests can be initiated within the stipulated time frame (48 hours) of the baby’s birth by a pediatrician.
NBS tests for PKU, what does the results mean?
During NBS tests for PKU, the levels of Phe in blood is measured.
The normal level of Phe in blood is less than 2mg/dL. Phe levels more than 4mg/dL is considered high. If abnormally high levels of Phe is found, additional tests may be required to confirm the diagnosis.
Why is screening for PKU important?
If PKU is not treated during the initial stages, there is a high risk that the child will develop certain complications including:
- Development Delays
- Low IQ
- Mood disorders
- Intellectual disability
How to treat PKU?
Once the diagnosis of PKU is confirmed, the child needs to be on a special lifelong diet with low Phe content. The infant can have breast milk. However, a special Phe-free infant formula will be needed if the baby is on baby foods. Also, the child needs to eat carefully measured proportions of fruits, vegetables, and cereals.
The child needs to avoid the following food items like:
- Meat, poultry, and fish
- Foods or drinks with the artificial sweetener aspartame
In some cases, people with PKU take medicine (like SAPROPTERIN) that help process Phe in such cases, the child will continue the special meal plan, but he can enjoy a bit more freedom in choice of food.
It must be clearly understood that PKU has no cure and the control of PKU is a lifelong process. Adults with PKU can live healthy lives with proper abstinence and medications.