Phenylketonuria (PKU)

Phenylketonuria (PKU) is an inherited metabolic disorder in which the body cannot properly break down phenylalanine, an amino acid found in protein-containing foods. Without the enzyme phenylalanine hydroxylase (PAH), phenylalanine accumulates to toxic levels in the blood and brain, causing severe intellectual disability if untreated. PKU is one of the most successful examples of preventing disability through newborn screening.

Before newborn screening programs began in the 1960s, PKU was a leading cause of inherited intellectual disability. Untreated individuals develop severe and irreversible intellectual disability, seizures, behavioral problems, psychiatric disorders, and a characteristic musty or "mousy" odor due to phenylketones in the urine. They also tend to have fair skin, hair, and eyes due to impaired melanin production.

Thanks to universal newborn screening, PKU is now detected in the first days of life before damage occurs. Treatment involves a strict low-phenylalanine diet started early and continued for life. This means avoiding high-protein foods like meat, fish, eggs, dairy, nuts, and most grains, while using special medical formulas to provide essential amino acids. Some individuals respond to the cofactor BH4 (sapropterin) and can have a somewhat less restrictive diet.

PKU is caused by mutations in the PAH gene and is inherited in an autosomal recessive pattern. It affects approximately 1 in 10,000-15,000 births in most populations. Women with PKU must maintain strict blood phenylalanine control before and during pregnancy to prevent maternal PKU syndrome, which causes birth defects in the developing baby.

NutraHacker examines the following gene related to Phenylketonuria:

• PAH

For more information about your own genetic profile as related to Phenylketonuria, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.