What is the prognosis of PKU?

PKU is usually identified by newborn screening. A child’s outlook is very good if she strictly follows the diet. If treatment begins no later than 2 to 3 weeks of a baby’s life, and the diet is strictly followed, the child with PKU can be normal. There are no gender differences in risk factors or severity of PKU.

How long is the average lifespan of a person with phenylketonuria?

The average age at death was 55.8 years. Eleven subjects were still alive (seven females and four males). The oldest living male was 79 years of age. The average age of the survivors was 55.7 years.

Is PKU life threatening?

Is PKU a life threatening disease? No. PKU is a slowly progressive disease that does not cause acute symptoms. During the first months of life it is completely asymptomatic and can only be detected by population screening determinations.

Is PKU curable?

There currently is no cure for PKU, but the condition is controllable through proper diet and supplements. What kinds of diets do children with PKU need to adopt? PKU is caused by the body’s inability to metabolize phenylalanine, which is found in high protein foods such as poultry, meat, eggs and dairy products.

Does PKU get worse with age?

This is consistent with the recent findings of the systematic review by Medford (2017) including 29 articles representing 1784 PKU patients of all ages, who found that the main factor associated with worsening of metabolic control was age [9], as well as a less recent retrospective chart review related to 125 PKU …

What triggers PKU?

PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener.

Can you outgrow PKU?

A person with PKU does not outgrow it and must stay on the diet for life.

Can you live a normal life with PKU?

Treatment includes a special diet and regular blood tests. With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives.

Is PKU more common in males or females?

Each year 10,000 to 15,000 babies are born with the disease in the United States and Phenylketonuria occurs in both males and females of all ethnic backgrounds (although it is more common in individuals of Northern European and Native American heritage.)

Is PKU considered a disability?

The Social Security Administration does recognize phenylketonuria in its Blue Book of Medical Listings under Section 10.00 in paragraph C. 2. However, a diagnosis of the condition itself is not enough to qualify an individual for Social Security Disability benefits, regardless of the SSA’s listing inclusion.

What happens if someone with PKU eat protein?

A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.

What are common symptoms of phenylketonuria (PKU)?

As a result, children with PKU often will have pale skin, blond hair and blue eyes. Dry skin; eczema; and a “musty” odor resulting from the buildup of phenylalanine in hair, skin and urine are also common. Other signs and symptoms may include irritability, muscle stiffness, seizures, a small head and short stature.

Is PKU treatable?

PKU is a treatable disease. Treatment involves a diet that is very low in phenylalanine , particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child.

Is phenylketonuria dominant or recessive?

Phenylketonuria ( PKU ) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase ( PAH ). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine .

How is phenylketonuria diagnosed?

Phenylketonuria is diagnosed by a blood test, usually as part of the routine screening tests given to a newborn within the first few days of life. If PKU is present, the level of phenylalanine will be higher than normal in the blood.