Question

Phenyl ketonuria can be diagonsed by

Answer 1

These tests are often done within six weeks after birth. If a child or adult shows symptoms of PKU, such as developmental delays, the doctor will order a blood test to confirm the diagnosis. This test involves taking a sample of blood and analyzing it for the presence of the enzyme needed to break down phenylalanine.

Answer 2

Symptoms of phenylketonuria

PKU symptoms can range from mild to severe. The most severe form of this disorder is known as classic PKU. An infant with classic PKU may appear normal for the first few months of their life. If the baby isn’t treated for PKU during this time, they’ll start to develop the following symptoms:

seizures

tremors, or trembling and shaking

stunted growth

hyperactivity

skin conditions such as eczema

a musty odor of their breath, skin, or urine

If PKU isn’t diagnosed at birth and treatment isn’t started quickly, the disorder can cause:

irreversible brain damage and intellectual disabilities within the first few months of life

behavioral problems and seizures in older children

A less severe form of PKU is called variant PKU or non-PKU hyperphenylalaninemia. This occurs when the baby has too much phenylalanine in their body. Infants with this form of the disorder may have only mild symptoms, but they’ll need to follow a special diet to prevent intellectual disabilities.

Once a specific diet and other necessary treatments are started, symptoms start to diminish. People with PKU who properly manage their diet usually don’t show any symptoms.