What are the different types of PKU?

There are four types of PKU:

• Hyperphenylalaninemia: the lowest level above normal.
• Mild PKU: blood levels are mildly elevated.
• Moderate or variant: levels are not low but not high.
• Classic PKU: blood levels of phenylanine are high.

What causes phenylketonuria?

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.

How common is PKU variant?

The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns.

What gene mutation causes phenylketonuria?

Point mutations in the PAH gene are known to cause PKU in various ethnic groups, and large deletions or duplications account for up to 3% of the PAH mutations in some ethnic groups.

What is the life expectancy of someone with phenylketonuria?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child’s outlook is very good if she strictly follows the diet.

Does PKU affect the liver?

Phenylketonuria (PKU OMIM 261600) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. It results in the accumulation of phenylalanine (Phe), an essential amino acid mainly metabolized in the liver by the phe hydroxylase (PAH) system.

Who’s at risk for phenylketonuria?

In the United States, PKU is most common in people of European or Native American ancestry. It is much less common among people of African, Hispanic, or Asian ancestry.

What race is PKU most common in?

What chromosome is PKU?

Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.

Does PKU shorten life expectancy?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states.

What gender is PKU most common in?

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.)

What can you eat if you have PKU?

The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas.

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 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 inherited?

Phenylketonuria is a genetic disorder inherited from a person’s parents. It is due to mutations in the PAH gene, which results in low levels of the enzyme phenylalanine hydroxylase.