What is the life expectancy of someone with phenylketonuria?
With prompt diagnosis and treatment, people with phenylketonuria can avoid the most severe symptoms associated with this disorder and experience normal development. Their life expectancy will most likely be no different from someone without the disorder.
What does PKU do to the body?
Too much phenylalanine in the body causes problems with the brain and other organs. Damage from a buildup of phenylalanine can begin within the first month of life and, if undetected and/or untreated, PKU results in severe mental retardation, hyperactivity, and seizures. PKU affects about 1 baby in every 13,000 to 19,000 births.
What are common treatments for phenylketonuria (PKU)?
PKU (phenylketonuria) is a blood disorder in which people have an absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH) and therefore cannot break down the amino acid phenylalanine. PKU treatment usually involves a low-protein diet with no artificial sweeteners and amino acid supplements.
What is phenylalanine and is it dangerous?
Phenylalanine is an amino acid found in many foods and used by your body to produce proteins and other important molecules. It has been studied for its effects on depression, pain and skin disorders. How much phenylalanine is too much? DL-phenylalanine may cause symptoms of anxiety, jitteriness, and hyperactivity in children. Doses higher than 5,000 mg a day may be toxic and can cause nerve damage.
Are Phenylketonurics harmful?
However, for people who have the genetic disorder phenylketonuria (PKU) or certain other health conditions phenylalanine can be a serious health concern. Phenylalanine can cause intellectual disabilities, brain damage, seizures and other problems in people with PKU .
What does the word Phenylketonurics mean?
Phenylketonurics" is the term used to refer to people that have the metabolic disorder Phenylketonuria, or PKU for short. So - kind of like how the word "diabetics" refers to people that have "diabetes", "phenylketonurics" refers to the people that have "phenylketonuria".
What are the side effects of Phenylketonurics?
You also should avoid the supplement if you have a sensitivity to phenylalanine or a condition in which your body can't break down phenylalanine such as phenylketonuria (PKU)....Side effects may include:Heartburn.Fatigue.Nausea.Constipation.Dizziness.Headache.Anxiety and hypomania (a milder form of mania)Sedation.More items...•
Why is phenylalanine in my drink?
This neurotransmitter enhances mental alertness and memory and improves mood. It also suppresses appetite, which is probably the reason for the mention of Phenylalanine on food labels - an indication that it might be used as a 'dietary aid'.
Does phenylalanine raise blood sugar?
Conclusion: In summary, phenylalanine in an amount moderately greater than that in a large protein meal stimulates an increase in insulin and glucagon concentration. It markedly attenuates the glucose-induced rise in plasma glucose when ingested with glucose.
What foods contain phenylalanine?
Phenylalanine is found in most protein-containing foods such as milk, eggs, cheese, nuts, soybeans, chicken, beef, pork, beans and fish.
Does phenylalanine make you gain weight?
Since aspartame breakdown produces phenylalanine, the Mass General researchers hypothesized it could very well contribute to weight gain when consumed frequently.
Does phenylalanine cause weight loss?
The researchers found that the single-dose of phenylalanine reduced food intake, increased levels of GLP-1 and decreased levels of ghrelin. Repeated administration also caused weight loss in the obese mice.
Can phenylalanine raise blood pressure?
Phenylalanine can increase a chemical in the body called tyramine. Large amounts of tyramine can cause high blood pressure.
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.
Does Coca Cola contain phenylalanine?
Some of our reduced and no sugar, no calorie drinks like Diet Coke and Coca‑Cola Zero Sugar are sweetened with aspartame, which contains a source of phenylalanine, and so all our products are carefully labelled to make this clear.
Is phenylalanine a sweetener?
Phenylalanine is also sold as a dietary supplement. The artificial sweetener aspartame (Equal, NutraSweet), which is added to many medications, diet foods and diet sodas, contains phenylalanine.
Is aspartame a Phenylketonurics?
Therefore, FDA has ruled that all products containing aspartame must include a warning to phenylketonurics that the sweetener contains phenylalanine.
What is phenylalanine used for in food?
Good sources include high protein foods like eggs, dairy, meat, and soy products ( 3 , 4 ). Your body uses L-phenylalanine to make proteins and other important molecules. It has also been studied as a treatment for several medical conditions, including skin disorders and depression (2).
Why does diet Coke have phenylalanine?
Phenylalanine occurs naturally in many protein-rich foods, such as milk, eggs and meat. Phenylalanine is also sold as a dietary supplement. The artificial sweetener aspartame (Equal, NutraSweet), which is added to many medications, diet foods and diet sodas, contains phenylalanine.
What does the word phenylalanine mean?
Phenylalanine is an amino acid, a "building block" of protein. There are three forms of phenylalanine: D-phenylalanine, L-phenylalanine, and the mix made in the laboratory called DL-phenylalanine. D-phenylalanine is not an essential amino acid. Its role in the body is not currently understood.
What causes PKU?
A defective gene (genetic mutation) causes PKU, which can be mild, moderate or severe. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process phenylalanine, an amino acid. A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, ...
What is the name of the condition where a defect in the gene causes phenylalanine to build up?
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.
Why is it important to maintain a PKU diet?
It's especially important for women with a history of PKU to see a doctor and maintain the PKU diet before becoming pregnant and during pregnancy to reduce the risk of high blood phenylalanine levels harming their unborn babies. Adults. People with PKU continue to receive care across the life span.
How do you know if you have a PKU?
However, without treatment, babies usually develop signs of PKU within a few months. PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.
Why do children with PKU need special diets?
But most children with the disorder still require a special PKU diet to prevent intellectual disability and other complications.
What is the most severe form of PKU?
The severity of PKU depends on the type. Classic PKU. The most severe form of the disorder is called classic PKU. The enzyme needed to convert phenylalanine is missing or severely reduced, resulting in high levels of phenylalanine and severe brain damage. Less severe forms of PKU.
Why does my urine smell musty?
A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body. Neurological problems that may include seizures. Skin rashes (eczema) Fair skin and blue eyes, because phenylalanine can't transform into melanin — the pigment responsible for hair and skin tone.
What is phenylketonuria?
Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine in the blood. The primary symptom of untreated PKU, mental retardation, is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue.
What is PKU in medical terms?
Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal ...
What is the function of PKU?
This enzyme converts (metabolizes) the amino acid called phenylalanine into another amino acid, tyrosine. This is the only role of PAH in the body.
Why do babies with PKU need to be on a diet?
Infants with PKU should be put on a specialized diet as soon as they are diagnosed to avoid progressive brain damage and other problems caused by an accumulation of phenylalanine in the body. A PKU diet helps patients maintain very low blood levels of phenylalanine by restricting the intake of natural foods that contain this amino acid. Even breast milk is a problem for PKU babies. Special PKU dietary mixtures or formulas are usually obtained from medical clinics or pharmacies.
What is phenylalanine hydroxylase?
An AUTOSOMAL RECESSIVE inherited deficiency of the liver enzyme phenylalanine hydroxylase that converts the amino acid phenylalanine into tyrosine. Phenylalanine and its toxic derivatives accumulate in the body and can cause brain damage with mental retardation, unexpectedly fair hair, blue eyes and a musty body odour. The disease is caused by some of more than 500 mutations of the gene that codes for phenylalanine hydroxylase. A co-factor, tetrahydrobiopterin is also involved in the conversion and it has been discovered that in mild cases of phenylketonuria this substance can significantly lower the blood levels of phenylalanine. Babies are screened at birth by the Guthrie test and about 1 in 10,000 is found to have the condition. A diet free from phenylalanine can prevent harm from developing, so breast feeding must be avoided and special diets provided.
How old do you have to be to get a PKU?
Visual perception, visual-motor skills, and critical thinking skills can also be affected. Ten years of age seems to be an important milestone for PKU patients. After age 10, variations in a patient's diet seems to have less influence on their IQ development.
How does Pku affect the nervous system?
Nerve cells have specialized extensions called dendrites and axons. Stimulating a nerve cell triggers nerve impulses, or signals, that speed down the axon.
What is the pathophysiology of phenylketonuria?
Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of tetrahydrobiopterin (new variant subtype) utilized in the first step of the metabolic pathway.
Who discovered phenylketonuria?
Phenylketonuria was discovered by the Norwegian physician Ivar Asbjørn Følling in 1934 when he noticed hyperphenylalaninemia (HPA) was associated with intellectual disability. In Norway, this disorder is known as Følling's disease, named after its discoverer. Følling was one of the first physicians to apply detailed chemical analysis to the study of disease.
What is the name of the disease that causes a lack of phenylalanine?
PAH deficiency causes a spectrum of disorders, including classic phenylketonuria (PKU) and mild hyperphenylalaninemia (also known as "hyperphe" or "mild HPA"), a less severe accumulation of phenylalanine. Compared to classic PKU patients, patients with "hyperphe" have greater PAH enzyme activity and are able to tolerate larger amounts of phenylalanine in their diets. Without dietary intervention, mild HPA patients have blood Phe levels higher than those with normal PAH activity. There is currently no international consensus on the definition of mild HPA, however it is most frequently diagnosed at blood Phe levels between 2-6 mg/dL.
What is PKU in biology?
Phenylketonuria ( PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders.
Why is it important to have low Phe levels?
For women with PKU, it is important for the health of their children to maintain low Phe levels before and during pregnancy. Though the developing fetus may only be a carrier of the PKU gene, the intrauterine environment can have very high levels of phenylalanine, which can cross the placenta. The child may develop congenital heart disease, growth retardation, microcephaly and intellectual disability as a result. PKU-affected women themselves are not at risk of additional complications during pregnancy.
What happens if a child is not diagnosed with phenylalanine?
If a child is not diagnosed during the routine newborn screening test and a phenylalanine restricted diet is not introduced, then phenylalanine levels in the blood will increase over time. Toxic levels of phenylalanine (and insufficient levels of tyrosine) can interfere with infant development in ways which have permanent effects. The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a "musty odor" to the baby's sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylketone). In most cases, a repeat test should be done at approximately two weeks of age to verify the initial test and uncover any phenylketonuria that was initially missed.
What is phenylalanine PKU?
Sapropterin dihydrochloride, pegvaliase. Prognosis. Normal health with treatment. Frequency. ~1 in 12,000 newborns. Phenylketonuria ( PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.
What causes phenylketonuria?
Causes of phenylketonuria. PKU is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine. A dangerous buildup of phenylalanine can occur when someone eats high-protein foods, such as eggs and meat.
How severe is phenylketonuria?
Symptoms of phenylketonuria. PKU symptoms can range from mild to severe. The most severe form of this disorder is known as classic PKU. An infant with classic PKU may appear normal for the first few months of their life.
How to test for PKU in newborn?
Since the 1960s, hospitals in the United States have routinely screened newborns for PKU by taking a blood sample. A doctor uses a needle or lancet to take a few drops of blood from your baby’s heel to test for PKU and other genetic disorders.
How many babies are diagnosed with PKU?
Babies in the United States are screened for PKU shortly after birth. The condition is uncommon in this country, only affecting about 1 in 10,000 to 15,000 newborns each year. The severe signs and symptoms of PKU are rare in the United States, as early screening allows treatment to begin soon after birth. Early diagnosis and treatment can help ...
Why do babies get PKU?
PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, your body can’t break down phenylalanine. This causes a buildup of phenylalanine in your body. Babies in the United States are screened for PKU shortly after birth.
What is the name of the condition where a protein is made from an amino acid called?
Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. Phenylalanine is found in all proteins and some artificial sweeteners. Phenylalanine hydroxylase is an enzyme your body uses to convert phenylalanine into tyrosine, ...
What is a PKU?
A less severe form of PKU is called variant PKU or non-PKU hyperphenylalaninemia. This occurs when the baby has too much phenylalanine in their body. Infants with this form of the disorder may have only mild symptoms, but they’ll need to follow a special diet to prevent intellectual disabilities.
Phenylketonurics: Contains Phenylalanine
The warning contains three words, two of which are not in most peoples’ everyday language: Phenylketonurics and phenylalanine. What do they mean? Simply put, “Phenylketonurics” means “People who suffer from Phenylketonuria”, whilst “phenylalanine” is the name of a particular essential amino acid which cannot be made in the human body.
PKU Symptoms and Treatment
PKU is an incurable condition which when untreated can result in microcephaly (abnormally small head) and many mental disorders and intellectual disabilities. There are a couple of different types of PKU, and if you had it you would probably already know about it.
Foods containing Phenylalanine
Phenylalanine is found in a large number of foods, including chicken, eggs, milk, beef, soybeans, and pork. These natural sources are well known so people with PKU (Phenylketonurics) know to avoid and regulate their diets around them. For this reason, there is no need to include food warnings on every carton of eggs and every block of tofu.
Aspartame breaks down to Phenylalanine
The main reason foods carry the PKU warning is our old friend aspartame, which we’ve written about here and here and elsewhere. When aspartame metabolises (as your body digests it), it forms phenylalanine.
Can you test for PKU?
If you aren't sure if phenylalanine or aspartame is a concern for you, talk to your doctor. A blood test to determine if you have PKU is available and is now routinely done as part of newborn screening.
Is phenylalanine a genetic disorder?
However, for people who have the genetic disorder phenylketonuria ( PKU) or certain other health conditions phenylalanine can be a serious health concern. 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, ...
Is phenylalanine in diet soda bad for you?
Is phenylalanine bad for your health? Answer From Katherine Zeratsky, R.D., L.D. Phenylalanine isn't a health concern for most people. However, for people who have the genetic disorder phenylketonuria ...
Can you take aspartame if you don't have PKU?
If you don't have PKU, you probably don't need to worry about harmful health effects of phenylalanine — with certain important exceptions. Aspartame in large doses can cause a rapid increase in brain levels of phenylalanine.
Is phenylalanine a dietary supplement?
Phenylalanine is also sold as a dietary supplement. The artificial sweetener aspartame (Equal, NutraSweet), which is added to many medications, diet foods and diet sodas, contains phenylalanine.
