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Signs and Symptoms of PKU Disease

Phenylketonuria (PKU) is an inherited disease marked by an increased presence of the amino acid phenylalanine in the bloodstream. While initially not serious, high levels of phenylalanine can make infants sick and cause serious health problems down the line. It is important to recognize the signs and symptoms of PKU before serious damage is done to the brain that impairs both the intellect and some physical functions.

  1. Incidence

    • Symptoms of PKU depend on the level of phenylalanine in the bloodstream. In some cases, symptoms are very mild, but they can also be quite severe. According to Medicinenet.com, PKU affects every 1 out of 10,000 to 15,000 newborns each year in the United States. In most cases, PKU is detected by newborn screening right away, and treatment is started without the appearance of any symptoms. Since most babies are screened for the disorder, severe symptoms are rare.

    Mental Delays

    • According to Medicinenet.com, most babies with PKU will appear normal during the first few months of life. However, as phenylalanine levels mount in the blood, these babies will begin to develop intellectual disabilities. If the disease gets to this stage, the damage caused by PKU will be permanent. Symptoms include delayed mental and social abilities, a head that has not developed in proportion to the rest of the body, mental retardation and hyperactive behavior.

    Physical Anomalies

    • Babies with PKU will also develop physical signs as well as mental symptoms. Spasmodic jerking of the arms and legs is common as are seizures. The extra phenylalanine will also cause the body to produce an unpleasant, musty odor. PKU affects melanin, and children with the disorder tend to have skin and hair that are lighter than the rest of the family. People with PKU are also prone to skin rashes, tremors and misaligned hands.

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