What causes phenylketonuria PKU?
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.
What is classic phenylketonuria PKU?
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid ) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.
Can phenylketonuria PKU be treated?
There is no cure for PKU. The most important treatment is a diet that limits foods with phenylalanine. This means the diet must be low in protein. Newborns diagnosed with the disease must use special infant formula.
What happens to the body when you have PKU?
A. In a child with PKU, phenylalanine cannot be converted to tyrosine because the phenylalanine hydroxylase enzyme does not work properly. This results in dangerously high levels of phenylalanine that build up in the blood and become toxic to the brain and nervous system.
Can you develop PKU later in life?
Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases.
What are the dangers of phenylalanine?
Phenylalanine can cause intellectual disabilities, brain damage, seizures and other problems in people with PKU . Phenylalanine occurs naturally in many protein-rich foods, such as milk, eggs and meat.
What is the life expectancy of someone with PKU?
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.
How quickly does DLPA work?
More. Supplementation with D-phenylalanine (DPA), a synthetic variation of the amino acid , L-phenylalanine (LPA), has reduced chronic pain due to osteoarthritis in a preliminary trial. In that study, participants took 250 mg three to four times per day, with pain relief beginning in four to five weeks.
How much phenylalanine is safe?
When taken by mouth: L-phenylalanine is LIKELY SAFE for most people when taken in amounts commonly found in foods. L-phenylalanine is POSSIBLY SAFE when taken as medicine, short-term. D-phenylalanine is POSSIBLY SAFE when used as a single dose of up to 10 grams.