What is the prognosis for PKU?
If PKU is confirmed, treatment will be given straight away to reduce the risk of serious complications. Treatment includes a special diet and regular blood tests. With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives.
What does PKU cause?
Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life. Neurological problems such as seizures and tremors. Behavioral, emotional and social problems in older children and adults.
What does the word phenylketonuria mean?
Listen to pronunciation. (FEH-nil-KEE-tone-yoor-ee-uh) An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development.
What chromosome is PKU found on?
chromosome 12Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.
Is PKU considered a disability?
Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh), often called PKU, is an inherited disorder that that can cause intellectual and developmental disabilities (IDDs) if not treated.
Can you outgrow PKU?
A person with PKU does not outgrow it and must stay on the diet for life.
What does PKU smell like?
Symptoms of PKU Untreated children with phenylketonuria often give off a mousy or musty body odor in their urine and sweat. This odor is the result of phenylacetic acid, which is a by-product of phenylalanine.
Can PKU be cured?
There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder.
What can PKU patients eat?
The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas.
Is PKU more common in males or females?
The risk is the same for males and females. More than 300 different changes (mutations) in the PKU gene have been identified.
Does PKU run in families?
Phenylketonuria (PKU) is passed down through families. To have the disease, a baby must get (inherit) the PKU gene from both parents. The father and mother may not have PKU or even know that PKU runs in their families.
What foods should be avoided with PKU?
They should avoid high-protein foods, like milk, dairy, meats, eggs, nuts, soy, and beans. A person with PKU also should avoid the artificial sweetener aspartame, which contains phenylalanine. Special formulas may be needed at any age for the person to get the right amount of calories and essential nutrients.
What happens if you have too much 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. Phenylalanine is also sold as a dietary supplement.
What happens when phenylalanine accumulates in the body?
When phenylalanine accumulates, it gets converted into phenyl pyruvic acid and other derivatives. Accumulation of phenylalanine results in brain damage, seizures, intellectual disabilities and mental retardation.
What does PKU smell like?
Symptoms of PKU Untreated children with phenylketonuria often give off a mousy or musty body odor in their urine and sweat. This odor is the result of phenylacetic acid, which is a by-product of phenylalanine.
How does phenylalanine affect the brain?
The high plasma phenylalanine concentrations increase phenylalanine entry into brain and restrict the entry of other large neutral amino acids. In the literature, emphasis has been on high brain phenylalanine as the pathological substrate that causes mental retardation.