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PKU Life: “What the Heck is Phenylketonuria?”

Phenylketonuria, or PKU, is a rare metabolic disorder caused by a faulty enzyme in the liver. Basically, my body cannot properly metabolize an amino acid in protein called Phenylalanine. The main treatment for PKU is lifelong adherence to a low-protein diet and daily consumption of a medical drink that has all the nutrients that I can’t metabolize from real food. So yeah, I’ve never had a steak. The consequences of undiagnosed PKU are severe developmental delays and lifelong institutionalization. But, thanks to newborn screening, those of us with PKU can be diagnosed, treated, and live normal, healthy lives.

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Featured

 On the Scent: The Discovery of PKU

A mother’s dogged search for the cause of her babies’ mental decline led to the discovery of a new disease. In the world of science PKU research contributed to biochemical concepts like the existence of metabolic “pathways” and spurred further research on the relationship between genes and proteins. Genetic diseases also took on new meaning; they were no longer seen as inalterable. A new branch of medicine, medical genetics, would concern itself with diagnosis, prevention, and treatment of inherited disorders like PKU.

Articles of Interest

How to Create a PKU-Friendly Diet

The PKU-friendly diet needs to be followed for life to maintain serum phenylalanine levels, which are checked regularly. High serum phenylalanine levels can result in lack of concentration, shortened attention span and memory problems. In addition to monitoring blood levels, the metabolic dietitian will regularly review diet records or food journals and growth charts, making adjustments to the eating plan as needed.

Nutritional Management of Phenylketonuria

Phenylketonuria (PKU) is caused by deficient activity of the enzyme phenylalanine hydroxylase, needed to convert the essential amino acid (AA) phenylalanine (phe) to tyrosine. In order to prevent neurological damage, lifelong adherence to a low-phe diet that is restricted in natural foods and requires ingestion of a phe-free AA formula to meet protein needs is required. The goal of nutritional management for those with PKU is to maintain plasma phe concentrations that support optimal growth, development, and mental functioning while providing a nutritionally complete diet.

Phenylketonuria (PKU) – the poster child for newborn screening!

PKU still requires a lifelong special diet. PKU still requires monitoring. PKU is still a burden to individuals and to families, but the accomplishments of those living with PKU is a celebration of overcoming, a celebration of the many minds who have contributed to research, and a celebration of the human spirit.

Protein diet - phenylalanine - low (PKU)

The diet eliminates all foods containing significant levels of protein (meat, poultry, fish, milk, yoghurt, cheese, eggs, nuts, seeds, legumes and peanut butter). Recommended foods are phenylalanine-free formula / medical formula to provide adequate protein (e.g. Easiphen, Lophlex, Phenyl-Free, Phenex) plus fruits, vegetables, and low-protein bread or cereal products.

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment

A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase

Phenylketonuria (PKU), with its associated hyperphenylalaninemia (HPA) and mental retardation, is a classic genetic disease and the first to have an identified chemical cause of impaired cognitive development. Treatment from birth with a low phenylalanine diet largely prevents the deviant cognitive phenotype by ameliorating HPA and is recognized as one of the first effective treatments of a genetic disease. However, compliance with dietary treatment is difficult and when it is for life, as now recommended by an internationally used set of guidelines, is probably unrealistic.

How do health care providers diagnose phenylketonuria (PKU)?

All 50 U.S. states and territories require that newborns get screened for PKU. In addition to the United States, many other countries routinely screen infants for PKU. Before screening for PKU was possible, most infants with the disorder developed severe intellectual and developmental disabilities (IDDs). In the 1960s, researchers supported by the federal Children’s Bureau determined that a test for PKU given to newborns was safe and effective. Later, NICHD led research on the safety and effectiveness of a restricted diet to treat PKU. Since then, PKU has been almost completely eliminated as a cause of IDDs.

Overview of Phenylketonuria (PKU)

Lifelong restriction of phenylalanine intake through the diet is needed to prevent buildup of phenylalanine in the body. However, this diet, as Dr. Klein notes, is particularly difficult to stick to. This has motivated many pharmaceutical companies, such as PTC Therapeutics, to develop a targeted therapy.

Phenylketonuria: A guide through the complex maze of its neurological pathophysiology providing a new perspective on treatment strategies

Phenylketonuria (PKU), an autosomal recessive disease caused by a deficiency in the phenylalanine-4-hydroxylase enzyme or its cofactor tetrahydrobiopterin, is characterized by excessive phenylalanine (Phe) and reduced tyrosine (Tyr) levels and typically manifests neurologically. Even early treated PKU patients with proper metabolic control, obtained immediately after birth upon diagnosis of the disease, show late-onset neurological complications. Although the disease has already been researched for over 90 years, the complexity of its neurological pathophysiology has only recently been unraveled.

Raising Baby Caroline: Life with PKU

Amy knew of newborn screening prior to giving birth and remembers the nurse telling her it had been done. She said she thinks about that little heel-prick often. “Newborn screening saved my baby’s life. I think daily about what our life would be like if we never had that test. I am so grateful.”

Rare Disease Spotlight: Phenylketonuria

Phenylketonuria (PKU) is a rare inherited disorder that results in the inability to break down the amino acid phenylalanine, found in all foods containing protein. A buildup of this in a person's blood or urine can cause both intellectual and developmental disabilities if left untreated. PKU is an autosomal recessive metabolic genetic disorder, this means that two PKU versions of a gene are required for an individual to be affected. Therefore, both parents must carry the defective gene. In these cases, there is a 25% chance of a child having PKU and a 50% chance that they will carry the gene but be unaffected.

Take control of your PKU

Go further to reach your PKU goals. The more you know, the more you can do to achieve
expert-recommended Phe levels.

What is PKU?

In PKU, dysfunctional PAH enzyme results in too much phenylalanine and not enough tyrosine. The goal of treatment is to reduce phenylalanine levels in the patient. The ground-breaking, gold-standard treatment developed in the 1950s is dietary intervention. The patient is put on a phenylalanine restricted diet that avoids most natural proteins (and therefore phenylalanine) and phenylalanine-free protein supplements. A phenylalanine-restricted diet remains an important part of treatment for most patients.  However, it’s no longer the only option. The treatment landscape has broadened,

“I Can Never Let My Guard Down,” Kevin Alexander’s Phenylketonuria Story

Phenylketonuria (PKU) is a rare disease which causes phenylalanine (an amino acid) to build up in the body, leading to serious health complications. Since amino acids are obtained through the dietary intake of protein, those with PKU must maintain a strict diet which is low in protein. Most patients are only able to ingest 10 grams of protein a day. However, a medicine called Kuvan has allowed PKU patients to eat up to 60 grams of protein each day, significantly increasing many patient’s quality of life. Of course, this medication is extremely expensive, leaving some patients without access.

Resources

PKU Journal

Reflections on PKU, newborn screening, rare disease, and mental health advocacy. That’s what PKU Journal is all about. Hello, I’m Kevin Alexander, and I have Phenylketonuria, also known as PKU. It’s a rare genetic disorder that affects how I metabolize protein. I’ve been an advocate for PKU, newborn screening, and rare disease awareness since 2012. My first project was a film called “My PKU Life”, and since then I’ve been traveling around the world speaking about life with this rare disease and producing other media projects about PKU.

National PKU Alliance

Our mission is to improve the lives of individuals with PKU, pursue a cure by expanding research and provide education and support to individuals living with PKU and their caregivers.

Perfectly PKU

On this blog, I want to share my PKU friendly recipes and food tips to help out other PKUers. I hope that any recipes, tips, or stories I share are helpful for all of you out there with PKU or for parents of children with PKU.

PKU News

National PKU News is dedicated to providing up-to-date, accurate news and information to families and professionals dealing with phenylketonuria (PKU).

PKUHope Foundation

Improving the quality of life for those with PKU by fostering community and influencing and supporting research for PKU treatment therapies.

The National Society for Phenylketonuria

The National Society for Phenylketonuria (NSPKU) was founded in 1973 as the national charity for people living with the rare metabolic condition phenylketonuria (PKU).

E.S.PKU Metabolic Passport

The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (or E.S.PKU) is the umbrella organisation of about 41 national and regional associations from 31 countries established by parents. Since 1987 the E.S.PKU through representatives of most European countries, has co-operated to considerably improve the quality of life of those with the condition PKU and allied disorders treated as PKU.

Sephience

SEPHIENCE (sepiapterin) is indicated for the treatment of hyperphenylalaninemia (HPA) in adult and pediatric patients 1 month of age and older with sepiapterin-responsive phenylketonuria (PKU). SEPHIENCE is to be used in conjunction with a phenylalanine (Phe)-restricted diet.

GARD

Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. Humans cannot make phenyalanine, but it is a natural part of the foods we eat. However, people do not need all the phenyalanine they eat, so the body converts extra phenylalanine to another harmless amino acid, tyrosine. People with PKU cannot properly break down the extra phenylalanine to convert it to tyrosine. This means phenylalanine builds up in the person's blood, urine, and body. PKU varies from mild to severe. The

StatPearls

Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of phenylalanine (Phe) to generate tyrosine (Tyr). PKU belongs to a class of aminoacidopathies termed toxic accumulation IEMs, in which the accumulation of an amino acid or its metabolite is toxic.