Phenylketonuria

Synonyms: PKU, phenylketonuria neonatal

Phenylketonuria (PKU) is a rare disease in which the baby is born without the ability to properly break down an amino acid called phenylalanine.

Prevention

An enzyme assay can determine if parents carry the gene for PKU. Examination of chorionic villi sampling can be performed during gestation to determine whether the fetus has PKU.

It is very important that women with PKU closely follow a low phenylalanine diet before becoming pregnant and during pregnancy, since the increase of this substance will damage the developing fetus, even though he has not inherited the defective gene.

Treatment

PKU is a treatable disease. The treatment consists of an extremely low-phenylalanine diet, particularly during the child's growth. The diet must be strictly followed. This requires an accurate supervision of a nutritionist or a doctor, and cooperation of the parents and the child. Those who maintain the diet into adulthood have better physical and mental health. "Dieting Forever" became a banner raised by most experts. This is very important, especially before conception and during pregnancy.

Phenylalanine is significantly found in milk, eggs and other common foods. Sweeteners aspartame also contains phenylalanine. All products containing aspartame should be avoided.

A special formula called Lofenalac is made for children with PKU. It can be used throughout life as a protein source extremely low in phenylalanine and balanced for the remaining essential amino acids.

The use of supplements such as fish oil to replace the long chain fatty acids missing from a standard diet without phenylalanine may help improve neurologic development, including fine motor coordination. Other specific supplements, such as iron or carnitine may be required.