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What is PKU?

What is PKU?

PKU is short for Phenyketonuria. PKU is a genetic disorder that a child inherits from both parents. For a child to be born with PKU both parents must either be carriers of PKU or have PKU, which means they carry at least one PKU gene.

PKU occurs due to a deficiency or absence of the enzyme phenylalanine hydroxylase (PAH), which interferes with a person’s ability to metabolize or process the amino acid phenylalanine (PHE) into tyrosine, another amino acid. Amino acids, like PHE, are the building blocks of protein found in food and the human body. Consuming too much PHE from food can lead to a toxic build-up of PHE in the blood and brain of a person with PKU. Without treatment, this buildup of PHE will cause irreversible brain damage.

Presently, there is no cure for PKU, but it can be managed effectively with proper diet and special nutritional formulas designed for persons with PKU.  View products.

Incidence of PKUAutosomalRecessiveInheritance

In order for an individual to have PKU, both parents must pass along their PKU gene to their child. When both parents are carriers of PKU, there is 1 in 4 chance with each pregnancy that the child will have PKU, 1 in 2 chance of the child being a carrier, and 1 in 4 chance that the child will neither have PKU nor be a carrier.

It is estimated that one out of 10,000 live births has decreased PAH activity(1). Autosomal Recessive Inheritance Normal Gene Carrier Non Carrier Carrier Carrier PKU Carrier PKU Gene Phenylketonuria (PKU) *Phenotype- observable traits, outward appearances, development or behavior.

Newborn Screening for PKU

Newborn screening for PKU began in the US and Canada in the 1960s. It is important that an infant is diagnosed and managed with diet within days after birth to prevent permanent negative effects from PKU.

Nutricia is proud to offer the largest variety of great tasting formula options for people with PKU.  

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Learn more online at MedicalFood.com or contact us at (800) 605-0410 for free product samples.

Your metabolic dietitian will help you decide which products are right for you.  PKU formula must be used under medical supervision.

Nutricia is a proud supporter of PKU Awareness Month and the National PKU Alliance

Nutricia is a proud supporter of PKU Awareness Month and the National PKU Alliance

References
1. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188-200.

Does your child love low protein pasta?

My child would eat pasta every day, every meal if I let him. It is great he found a food he enjoys, but I want my son to eat more vegetables and other healthy foods that provide fiber and other nutrients.

Here are some ideas to feed your child’s low protein pasta cravings, but to make your low protein pasta last longer and provide more dietary variety.

Soup 

Dicing carrots and celery (the smaller the better for young kids) and simmering in a vegetable broth with low protein pasta added is a low pro and filling lunch or dinner.   311You can use Loprofin Animal Pasta, Rice, or broken Spaghetti to keep it new and exciting.   Fresh dill adds a great ‘soup’ flavor and expand your child’s taste  palate.

Veggie Noodles 

Bulk up your Low Protein Spaghetti by mixing 278with Zucchini or Yellow Squash noodles. With a spiral vegetable slicer this only takes minutes and can really satisfy a bigger appetite.

 Spicy Vegetables over Low Pro Rice Pasta

You can do so many different meals with fresh or frozen cauliflower and carrots, which are Vegetable Curryboth naturally quite low in protein. Often, people on a low protein diet enjoy spice. Check out this recipe for Indian Curry with Loprofin Rice.

 Dish it out slow 

I often serve my son a small amount of pasta, which he gobbles up. Then ask him to eat 3-4 bites of the vegetables on his plate. Once done I serve another small portion of pasta and repeat. All children are motivated differently, but that love of pasta usually is an incentive to eat more veggies at meal time.

 Roll it up 

Kids love to eat with their hands (or at least my son does). Use Loprofin Lasagna to make a salad roll-up or other roll-up filled with veggies. Try filling a pasta roll-up with a blend of mashed potato and mashed cauliflower for a yummy kid friendly dinner entree.

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Order Loprofin Low Protein Pasta online at medicalfood.com

 

Written by Sandy Simons, MA, RD, CHES

PhenylAde® GMP Drink Mix from Nutricia

A Whole New Way to Think About PKU Nutriton

PhenylAde® GMP Drink Mix contains Glycomacropeptide (GMP), made from a whole protein source. It has a smooth, mild vanilla flavor AND is a GMP based PKU product with both DHA & Fiber.

 

PhenylAde GMP

CLICK HERE TO REQUEST A SAMPLE 

Talk to your metabolic dietitian or clinic about a PhenylAde GMP today!

DID YOU KNOW…

Nutricia has a team of Reimbursement Care Specialists to assist you in making a change to PhenylAde GMP or any other Nutricia product.  They can verify insurance benefits, help you find a supplier and more.

CLICK HERE TO LEARN MORE ABOUT OUR SERVICES

*This product is for use under medical supervision.  Please consult your metabolic healthcare professional prior to making any changes to your PKU diet plan.

 

Flying with Formula – Tips for your Next Trip

Flying with Formula – Tips for your Next Trip

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If you are planning a flying vacation, before you book, contact your airline’s customer service department to notify them of your travel requirements as soon as you can.  Airline policies regarding travelling with metabolic formula will differ so it is worth checking with a customer service representative before you arrive at the airport.

Airplane food is generally not PKU or low protein diet-friendly so you may need to pack (or purchase prior to boarding) any food or snacks you think you might need during the flight.

If you are booking an international flight you will need to order a special meal. Please note that even meals listed as low-protein or vegetarian/vegan may not be low enough in protein for the PKU diet, so explain your dietary requirements clearly.

Airline Tips

  • Always take a travel letter from your clinic explaining your medical condition, especially for international travel

  • Always pack extra PKU or metabolic formula in your carry-on bag in case of delays

  • Do not mix PKU or metabolic formula powders with liquid until you go past the security screening checkpoint

  • Keep your PKU or metabolic formula in its original sealed containers (packages, cans or sachets)

  • Take a copy of your child’s diet prescription with you

  • Take plenty of snacks for the flight

Useful PKU Traveler’s Tip

  • It may be useful to switch to a powdered PKU or metabolic formula when travelling abroad, to reduce your overall luggage weight. However, ready-to-drink pouches that don’t require mixing are also particularly convenient when traveling. Contact your dietitian for more information on these options

  • If you are traveling overseas, ask your metabolic healthcare professional team for information on where low-protein food supplies can be obtained in your destination country

  • If you are shipping your PKU or metabolic formula or food to a hotel prior to your arrival, be sure to label the box clearly with your name and arrival date on the package. Call and alert the hotel that a shipment will be arriving for you.

*Reference Source: My PKU Binder. National PKU Alliance. Chapter 11: Traveling, Page 88-89.

Celebrate Rare Disease Day

February 29th is Rare Disease Day!Rare Disease Day

Leap day is rare day that happens only once every 4 years, but many people live with a rare disease every day of the year.  Nutricia Metabolics is proud to help support those living with a rare metabolic condition.

Rare Metabolic Disorder List

 

Learn more about these Rare Metabolic Conditions – CLICK the letters to learn more:

HCU

 

Homocystinuria is an inherited, genetic disorder. “Classic” homocystinuria occurs because of a deficiency of the enzyme cystathionine betasynthase (CBS).  A deficiency in CBS interferes with the body’s ability to fully process an essential amino acid called methionine. If left untreated, this can cause serious health problems.

IVA

 

Isovaleric acidemia (IVA) is an inherited, genetic disorder. IVA occurs when there is a defect in an enzyme that helps break down protein from food. The name of the enzyme is isovaleryl-CoA dehydrogenase (IVD).

GA-1

 

Glutaric Aciduria Type 1 (GA-1) is an inherited, genetic disorder.  GA-1 occurs when there is a defect in an enzyme that helps break down protein from food. The name of the enzyme is glutaryl-CoA dehydrogenase (GCDH).

MMAPPA

 

 

 

Propionic acidemia (PA) and methylmalonic acidemia (MMA) are inherited, genetic disorders. Both are caused by defects in enzymes that are needed to break down protein.  In PA and MMA, four of the amino acids cannot be broken down but instead produce toxic acids in the body. These amino acids are methionine, isoleucine, threonine and valine, which are called “propiogenic amino acids.”

MSUD

Maple Syrup Urine Disease, or MSUD, is an inherited, genetic disorder caused by a defect in three enzymes that help break down protein from food. The official name for MSUD is Branched- Chain Alpha-Ketoacid Dehydrogenase Deficiency, but it is called MSUD because the urine from untreated infants with this disorder can smell sweet like maple syrup.

UCD

 

Urea cycle disorders (UCDs) are a group of inherited, genetic disorders. The urea cycle is a chain of reactions using a group of enzymes in the liver. These enzymes are important in removing unneeded protein byproducts (nitrogen) from the blood.

FAOD

Long-chain fatty acid oxidation disorders (LC-FAODs) are a group of inherited, genetic disorders. LC-FAODS occur when there is a defect in one or more enzymes that help break down fat from food for energy. LC-FAODs prevent the body from using fats normally.

LEARN MORE ABOUT OUR FULL LINE OF METABOLIC FORMULAS FOR THE DIETARY MANANGEMENT OF THESE RARE DISORDERS

 

Ready-to-Drink PKU Formula

Busy Schedules.  Hectic Mornings.   After School Activities.  Road Trips.  Family Vacations.  Sleep Over at a Friends. 

Just a few things that may cause you to skip a serving of formula or slow you down on a busy day.  Ready-to-Drink PKU Formula can help you save time and drink on the go!

Check out this Video  – Request A Sample

View more PKU Videos from Nutricia

Nutricia’s Top 10 PKU Formula Options for Adults

PKU is Diet-for-Life. Get back on track and find a PKU Formula you can enjoy drinking. 

Nutricia Metabolics is proud to offer the largest selection of PKU formulas and flavors.  Nutricia also offer free samples* so you can see which product and flavor is best for you.

Top 10 PKU Formulas for Adults

Try 1, try them all!

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Request a FREE product sample direct from Nutricia at www.medicalfood.com

 

*All samples are verified with a metabolic healthcare professional prior to shipping.  All PKU formulas must be used under medical supervision.

NPKUA – 2016 PKU Hero Award Announement

The National PKU Alliance is proud to announce that Rani H. Singh, PhD, RD, will be the recipient of the 2016 PKU Hero Award.

2016 PKU Hero Award Winner - Dr. Rani Singh

2016 PKU Hero Award Winner – Dr. Rani Singh

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Dr. Rani Singh currently directs the Genetics Metabolic Nutrition program at the Emory University School of Medicine, Department of Human Genetics. The nutrition program is one of the nationally leading programs offering complete services to manage metabolic disorders.

Not only an established leader, Dr. Singh has been a trusted dietitian to PKU patients at Emory for over 25 years. In addition to caring for her patients, she has contributed to over 140 publications and initiated countless efforts to improve PKU outcomes.

Dr. Singh is the founder and prior president of Genetic Metabolic Dieticians International (GMDI), an organization whose mission is to provide standards of excellence and leadership in nutrition therapy for genetic metabolic disorders including PKU.

In 1994, she founded the Emory Metabolic Camp to help young women understand the importance of the PKU diet in preventing maternal PKU syndrome. Dr. Singh was the leading Co-Principal Investigator in the development of the evidence based Nutritional Management Guidelines for the treatment of patients with PKU to help ensure that people receive the highest standard quality of care in the management of their PKU.

Dr. Singh has been highly recommended as the 2016 PKU Hero Award recipient and is deserving of this recognition. “Dr. Singh’s work and values exemplify her belief in collaboration and commitment to maximizing the benefits of newborn screening,” says Kristen Vanags. Dr. Singh’s love for her patients and depth of expertise has improved countless lives, and her work will positively influence the PKU community for many year!

Rani H. Singh, PhD, RD will be officially recognized at the 2016 National PKU Alliance Conference during the PKU Hero Award Banquet on Saturday, July 30th in Indianapolis, Indiana.

Congratulations Dr. Singh!

Défi Faites des pompes pour la PCU

Nous sommes très heureux et fiers d’appuyer la National PKU Association (NPKUA) ainsi que PCU et maladies apparentées Canada Inc. (CanPKU) avec notre défi Faites Des Pompes Pour La PCU afin d’aider à accroître la sensibilisation et d’amasser des fonds pour la PCU.

Du 2 novembre jusqu’à la journée nationale de sensibilisation à la PCU, le 3 décembre 2015, Nutricia North America fera un don de 5 $ pour chaque vidéo montrant une personne ou un groupe de personnes faisant au moins 5 pompes en soutien à la PCU.

Tout le monde peut participer! Vous pouvez faire les pompes sur vos genoux, sur vos orteils ou même contre un mur. Les personnes à capacité restreinte peuvent soulever une boîte de préparation 5 fois ou trouver une autre façon créative de participer. Assurez-vous simplement d’inclure les mots-clics #NutriciaMetabolics et #Pushups4PKU afin que nous puissions répertorier l’ensemble des vidéos. Vous pouvez aussi afficher votre vidéo sur notre page Facebook ou Instagram.

Alors, rassemblez vos amis et filmez-vous en train de faire 5 pompes pour la PCU! En plus d’aider à accroître la sensibilisation et d’amasser des fonds pour une bonne cause, vous aurez l’occasion de rester en forme et en santé. N’oubliez pas de lancer le défi à vos amis et de passer le mot.

Pour donner le coup d’envoi au défi Faites des pompes pour la PCU, voici ma vidéo. Je VOUS lance maintenant un défi : Faites des pompes pour la PCU (#pushups4PKU)!

Jeanine

 Jeanine Kendzejeski Metabolics Sales Director Nutricia North America

Jeanine Kendzejeski
Metabolics Sales Director
Nutricia North America

Jeanine Kendzejeski, directrice des ventes, Produits nutritionnels pour maladies métaboliques

N.B. Pour en connaître davantage sur la PCU, veuillez lire l’excellent billet

What is PKU (disponible en anglais seulement) publié sur le blogue LowProliving.com (lien vers http://www.lowproliving.com/what-is-pku-2/ ).

Nutricia ne prend aucun engagement et, par la présente, décline expressément toute responsabilité envers toute personne physique ou morale quant à des réclamations, des dommages, des dettes ou d’autres pertes relativement au présent concours. Nutricia ne pourra, en aucune circonstance, être tenue responsable envers toute personne physique ou morale quant à des dommages directs, particuliers, exemplaires, indirects, accessoires, consécutifs ou punitifs, quel qu’en soit le type ou la nature (y compris, sans restriction, toute responsabilité quant aux blessures ou autres dommages liés, d’une quelconque façon, à la participation directe ou indirecte au présent concours), qu’il s’agisse d’une poursuite fondée sur un contrat, une garantie, la responsabilité civile absolue, un délit civil (y compris la négligence, sans s’y limiter) ou autre, même si Nutricia a été informée préalablement de la possibilité de tels dommages ou si Nutricia aurait pu raisonnablement prévoir de tels dommages. Nutricia fera un don pour chaque vidéo reçu pendant cette période, jusqu’à concurrence de 400 vidéos.

 

How does PhenylAde GMP taste? Ask David.

 

My name is David Harris. I’m 40 years old and I was diagnosed with classical PKU.

When I tasted the PhenylAde GMP product, it was very easy to drink, it was very smooth, and in comparison to other products in the market, I actually preferred it.

Formula taste is key. It’s very important, because without a good taste, and a good consistency; it’s very difficult to get down.

If it tastes good, then I’ll drink it.


Curious to try PhenylAde GMP?

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