Phenylketonuria

is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Deficiency of the enzyme phenylalanine hydroxylase (PAH) leads to accumulation of phenylalanine in body fluids.

Phenylketonuria is inherited. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.

Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine.

Without the enzyme, levels of phenylalanine and two closely-related substances build up in the blood, this build up affects nerve cells. These substances are harmful to the central nervous system and cause brain damage and mental retardation. Phenylalanine has ketogenic and gluconeogenic intermediates that contribute to the glucose pool, which can play a role in normal brain development and function.

PKU PAH Deficiency Phenylalanine Hydroxylase Deficiency Disease Follings Disease

The most severe form of the disorder. It occurs when phenylalanine hydroxylase activity is severely reduced or absent. People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious medical problems.

Mutations in the PAH gene that allow the enzyme to retain some activity result in milder versions of this condition. Have a smaller risk of brain damage. People with very mild cases may not require treatment with a lowphenylalanine diet.

A woman who has PKU and becomes pregnant. Babies born to mothers with high phenylalanine levels may have complications at birth, most don't actually inherit PKU and won't need to follow a PKU diet after birth.

Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.

Other symptoms may include:

Delayed mental and social skills Head size significantly below normal Hyperactivity Jerking movements of the arms or legs Mental retardation Seizures Skin rashes Tremors Unusual positioning of hands

If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body.

PKU can be easily detected with a simple blood test. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital. If the initial screening test is positive, further blood and urine tests are required to confirm the diagnosis.

The main treatment is a strict diet with very limited intake of phenylalanine, which is mostly found in foods containing protein. Frequent blood tests will monitor PKU levels as they change over time. A supplement called neutral amino acid therapy powder or tablets. This supplement may block some absorption of phenylalanine.

Follow a low-phenylalanine diet. Women with PKU can prevent birth defects by sticking to or returning to a lowphenylalanine diet before becoming pregnant. Consider genetic counseling. If you have a history of PKU, a close relative with PKU or a child with PKU, you may also benefit from preconception genetic counseling.

A low Phe diet is used for treatment with, initially, the small amounts of Phe coming from breast milk or commercial infant formula considered sufficient intake in babies. In older children, protein intake is calculated each day, whereby a child is allocated a certain number of grams or units of daily protein, depending upon longitudinal plasma Phe concentrations. Foods such as eggs, milk, cheese, meat, poultry, fish, dried beans and legumes which are high in protein are excluded from the diet.

commercially available supplements of essential amino acids, lacking Phe, need to be taken on a daily basis. Children undergo regular blood Phe testing which, in concert with complete food diaries, are used by dieticians to make adjustments to the recommended diets

In the United States, about 1 in 15,000 births show classical PKU. In Turkey, 1 in 2600 births (Highest in the world) The incidence is relatively high in Italy, China, and Yemen. The gene defect occurs mainly in people from Europe and the U.S. The disorder is much less common in Asians and Latinos. Africa has the lowest rates of phenylketonuria.

PKU is a treatable disease. The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired.