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Category Archives: Ask the Metabolic Expert

How do you manage PKU?

Nutritional Management of PKU:

Since all foods with protein contain phenylalanine (PHE), a person with PKU must restrict the amount and types of food containing protein. For this reason, PKU is managed with a low-PHE diet consisting of foods low in protein and a PHE-free metabolic formula.

The main sources of foods with protein allowed in the low-PHE diet are fruits and vegetabiStock_000015639017Mediumles, and a limited amount of cereals and grains.

In addition to foods, individuals with PKU must drink a special PKU metabolic formula to supply the body with the necessary protein requirements the body needs for growth and maintenance, without the addition of the offending amino acid, PHE. There is also a wide range of commercially available low protein food products available for today’s PKU population. Click to View Nutricia’s Full Range of PKU products.

Nutrition management of PKU includes frequent monitoring of blood PHE levels and regular clinic visits. Blood PHE levels can be measured either at the clinic or hospital, or collected at home and mailed to the clinic for analysis. Managed blood PHE levels in persons with PKU are between 120-360 umol/L (2-6 mg/dL)1 .

Symptoms of Elevated Blood PHE Levels:

All patients with PKU, who are not started on diet immediately, will begin to build-up PHE in the blood and brain.

In an infant with classic PKU, poorly controlled PHE levels will result in irreversible brain damage. Therefore, it is essential that each infant who is diagnosed with PKU be started on a low-PHE diet to lower and maintain PHE levels within an appropriate range as soon after birth as possible.

If a child or adult previously diagnosed with PKU, and on diet, decides to discontinue the diet, he or she will begin to build up PHE in the blood, which may increase PHE levels in the brain. Over time, toxic levels of PHE in the brain can result in a change in their brain executive functions.

Executive function involves thinking skills, memory, and concentration, all of which can decline with high PHE levels. Also, an adult might feel shaky and clumsy.

If an adult is exposed to high brain PHE levels for a long enough time, IQ losses may occur. For Adult Imagethese reasons, it is important that persons with PKU stay on the low-PHE diet for life1,2.

 

REQUEST Book CoverA RETURN TO DIET GUIDE BOOK NOW

Tips for Making PKU Formula part of your life (1)

 

 

Know Your PKU Facts

 

 

 

 

To learn more about the PKU diet or for assistance returning to the PKU diet plan email DietforLife@nutricia.com or call 800-605-0410.

References:

1.. Singh RH, Rohr F, Frazier D, et al. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med. 2014;16(2):121-31.

  1. Thompson AJ, Smith T, Brenton D et al.: Neurological deterioration in young adults with phenylketonuria. Lancet 1990; 336:602-605

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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.  

pku-by-brand

 

 

 

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.

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

NPKUA LOGO

 

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!

PKU Periflex Junior Plus – Tips for Transition

Nutricia recently launched PKU Periflex® Junior Plus, a new addition to the Periflex family, with the goal of providing the best in PKU nutrition to your child. Towards this goal they have improved Periflex® Junior based on latest medical and scientific knowledge.

PKU Periflex Junior Plus - PKU Formula for Children

Available in Berry, Orange, Plain and Vanilla

Learn more about PKU Periflex Junior Plus

PKU Periflex Junior Plus has been improved to now provide DHA and Fiber for your child

  • DHA is an omega-3 fatty acid found to be lacking in the typical PKU diet
  • Nutricia’s own patented Multi-Fiberblend was added to help support your child’s overall gut health.

DID YOU KNOW IT CAN TAKE SEVERAL ATTEMPTS FOR A CHILD TO GET USED TO A NEW FOOD OR PKU FORMULA?

For some kids, a change in formula can be challenging. Some kids may need to try new foods/formula many times before acquiring a taste for it. So please be patient if that is the case with your little one.

To help we have created the PKU Periflex Junior Plus Activity Book.

PKU Formula Activity Book

Help your child transition to PKU Periflex Junior Plus with this fun, interactive activity book

Call 800-605-0410 to request a FREE Copy

Be sure to talk to your dietitian or clinic about a transition plan. They can provide a plan that will guide you step by step to make a slow and stead move to the new product by mixing  the new product and current product together to aid your child in making a successful change to PKU Periflex Junior Plus.

Request a Sample Now

Written by Linda Leuffgen, RD – Medical Affairs Associate, Nutricia North America

Do I really need to follow the expiration date?

by Linda Leuffgen, RD

It’s now 2015 and you see those expiration dates creeping up.

“Is expired product still safe to use?”

We get this question a lot. Our advice is not to use a medical food or low protein food product past its’ date of expiration. Let me explain why as a lot of factors go into determining an expiration date for all food; not just for Nutricia products.

First is the reliability of the packaging materials. We need to make sure the product inside that packaging is safe until the expiration date. Second is the stability of the ingredients in the product. For example, some fats go bad faster than others. We want to ensure the product you consume is fresh which is indicated by the use by date.

Another determination for expiration dates is to ensure the nutrients in the product are true to the levels marked on their label. Nutrients, especially vitamins, have a tendency to naturally break down over time; some faster than others. It is extremely important that the right amount of each nutrient is in the product since these formulas tend to make up more than 50% of your nutritional needs. We conduct extensive testing under a number of conditions to ensure that the nutrients hold up until the date of expiration.

Nutricia’s goal is to bring you the best nutritional products possible. The intent of an expiration date is to keep our consumers safe and ensure they receive the nutrition they need. Again, we cannot recommend using any of our products past their date of expiration. We suggest discussing this further with your healthcare professional if you have expired product at home and require further questions.

Nutrition Series: Calcium & Your Child’s Diet

Calcium is best known for its role in bone health. In fact, the body stores more than 99% of calcium in bones and teeth to keep them strong [1]. However, calcium also plays a critical role in many bodily functions including muscle contraction, hormone secretion and nerve transmission [2].

The body must maintain constant levels of calcium in the blood, muscles and cells in order for the body to function properly. Although the level required for this is small (less than 1% of total body calcium), if you aren’t getting enough calcium from your diet, the body will use calcium stored in bones to maintain these processes, resulting in bone loss.

Calcium intake throughout childhood and adolescence sets the stage for your little one’s lifetime bone health because the development of peak bone mass during these years will reduce the risk of fractures and Osteoporosis later in adulthood.[3]

The recommended intake of calcium for infants and children are [4]:

  • Birth-6 months: 210 mg per day
  • 7-12 months: 270 mg per day
  • 1-3 years: 500 mg per day
  • 4-8 years: 800 mg per day
  • 9-13 years: 1300 mg per day

The best sources of calcium are milk and milk products, soy products like tofu, leafy greens and of course, the extra calcium-rich sardines. For children with PKU or other inborn errors of metabolism, the best dietary source becomes medical food (formula) fortied with calcium, since the natural foods listed above are not permitted (or highly restricted) in a low protein diet.  It’s also important to get enough Vitamin D because it plays a key role in the body’s absorption of calcium.

This September, Nutricia launched new products for people over 1 year of age with Phenylketonuria (PKU) or Tyrosinemia (TYR).  PKU Periflex® Junior Plus and TYR Anamix® Next are an excellent source of both Calcium and Vitamin D.   Both products meet 100% of current daily recommended intake in 20 g of protein equivalent (PE) a day based on protein needs of an average 2 year old (male).   PKU Periflex Junior Plus and TYR Anamix Next also contain a multi-fiber mix to support digestive health and DHA to support brain and eye development (up to 2 years of an age).

Another important factor for bone health is regular exercise and weight-bearing activities. So make sure that your children get adequate calcium and Vitamin D and encourage them to be active.

 

[1] Weaver CM, Heaney RP. Calcium. In: Shils ME, Shike M, Ross AC, Caballero B, Cousins RJ. Modern Nutrition in Health and Disease. 10th ed. Baltimore, MD: Lippincott Williams & Wilkins, 2006:194-210.

[2] http://dietary-supplements.info.nih.gov/factsheets/calcium.asp. [

3] PEDIATRICS Vol. 117 No. 2 February 2006, pp. 578-585 (doi:10.1542/peds.2005-2822).

[4] Institute of Medicine, Food and Nutrition Board. Dietary Reference Intakes for Calcium, Phosphorus, Magnesium, Vitamin D, and Fluoride. Washington, DC: National Academy Press;1997.

Posted by:  Linda Leuffgen, RD

Medical Affairs Associate for Nutricia North America

 

 

Why can’t I just follow a low protein diet?

The simplest answer is because you need protein.  Following a low protein diet without formula could lead to protein deficiency. You may also lack energy and develop an array of secondary health problems.

PKU formula  provides phenylalanine-free protein.  Since all natural food, with the exception of pure fat and sugar, contain some PHE, you must watch your total food intake. If you only eat foods that are low in protein you body may not get enought daily protein.  In addition, eating larger portions of foods that are ‘lower’ in protein can still add up to up more phenylalanine than you can tolerate in a day, resulting in high blood PHE levels.

Formula allows you to take in PHE-free protein and calories to help you meet your daily needs.   PKU formula can also help you feel less hungry.   Controling hunger is important becasue despite your best efforts to only eat low protein, excess hunger may lead you to consume some foods that are higher in protein or larger portions.

Don’t forget – drinking PKU formula also provides a balance of all the other amino acids (building blocks of protein) you need plus tyrosine which is an essential amino acid (needed from food) for those with PKU.

If you are currently not drinking formula and only watching what you eat, assess the reasons why you are not going ‘all in’ on your PKU diet.

  • Are you uncertain if your insurance covers formula or have you been denied in the past?
  • Do you recall from childhood hating your formula and not wanting to drink it?
  • Just stopped re-ordering for no good reason at all?

If any of these ring a bell, let Nutricia help you.

We offer a complimentary samples and a staff of trained coverage specialist that can help navigate your insurance to see if you have coverage and help find a local supplier.

Don’t delay – getting back on track and including PKU formula in your diet will be one decision you will not regret.

Request a free PKU product sample at www.medicalfood.com


Posted by: Sandy Simons, MA, RD, CHES

Sandy is a Registered Dietitian and Certified Health Education Specialist. She received her graduate training at Columbia University’s Teacher College in New York. She has been working on the industry side of metabolic nutrition for the past 11 years and is often seen at patient events around the country. This post is based on an excerpt from My PKU Toolkit: A Transition Guide to Adult PKU Management.

New Artificial Sweeter – OK for PKU?

FDA Approves New Artificial Sweetener

A new sugar substitute called advantame was approved on Monday by the U.S. Food and Drug Administration.  Advantame is chemically similar to aspartame (Equal), and certain people should avoid or limit their use of aspartame, the FDA noted.

These people have a genetic disorder called phenylketonuria (PKU), which makes it difficult for them to metabolize phenylalanine, a component of both aspartame and advantame. Food with aspartame must include label information warning people with PKU about the presence of phenylalanine.

The FDA evaluated whether advantame should also carry alerts for people with PKU. Because advantame is much sweeter than aspartame, only a small amount is needed to achieve the same level of sweetness.  As a result, foods that contain advantame do not need to include alerts for people with PKU, the FDA said.

Be sure to talk to your metabolic professional if they feel advantame is suitable for your diet.  Currently, the exact PHE content has not been reported.

SOURCE: U.S. Food and Drug Administration, news releases, May 19, 2014

At what age should I introduce solid foods?

At what age should I introduce solid foods?Feeding child

The American Academy of Pediatrics (AAP) currently recommends gradually introducing solid foods when a baby is about 6 months old.1

**Always consult your metabolic healthcare professional before introducing new foods or changing your child’s low protein diet.

How do I know if my baby is ready to eat solids?

The following tips may help2

  • Is your baby’s tongue-thrust reflex gone or diminished?
    This reflex prevents infants from choking on foreign objects, but also causes them to push food out of their mouths. Ask your pediatrician or metabolic dietitian.
  • Can your baby support his/her own head?
    To eat solid food, an infant needs good head and neck control and should be able to sit up unassisted in a high chair.
  • Is your baby interested in food?
    A 6-month-old baby who stares and grabs at your food at dinnertime is clearly ready for some variety.

What should I know about first foods?

Until now your baby is only used to liquids so it is essential that the first foods offered are a smooth, runny purée. First solids should be bland, easy to swallow and easy to digest. Your baby can progress to a thicker purée once they become used to the runny texture.

What types of food should I offer?

Check with your metabolic dietitian which foods are best for your baby.  Most parents begin with rice cereal mixed with formula and gradually introduce other foods. Homemade purées are inexpensive and easy to make. Fruit and vegetables can be cooked in a small amount of water until soft and then puréed using a hand blender or food processor. Ready-to-eat first foods and baby cereals are also available in the grocery store. Once you have introduced single purees to your baby you can try mixing different combinations for variety e.g. sweet potato and carrot, or apple and pear.

How much should I give my baby to eat?

At first, only offer very small amounts (about 1-2 teaspoons at a single meal). Gradually more food can be offered. When your baby is taking a reasonable amount of solids at a single meal (about 6-10 teaspoons) you can introduce solids at a second meal in the day and then at a third.

Suitable Low Protein Baby Foods2

6-8 Months Old

  • Apple sauce
  • Very small pieces of soft fruit
  • Some cereals
  • Soft cooked vegetables such as carrots or squash

9-12 Months Old

FRUITS

Fresh

  • Wash thoroughly.
  • Remove skins and seeds.
  • Cut into small, bite-size pieces or thin sticks (i.e. quarter grapes).
  • At one year, include unpeeled ripe fruits, berries, pears and nectarines.

Frozen/Canned

  • Look for fruits packed in their own juices.
  • Avoid fruits canned in heavy syrup.
  • Frozen fruits are soothing to teething gums.

Dried

  • Pitted or seedless prunes, apples, apricots, peaches, and dates.
  • Avoid raisins, which can cause choking.

Examples: Apple, Apricot, Avocado, Banana, Berry Grape, Kiwi, Mango, Melon, Nectarine, Orange, Papaya, Peach, Pear, Plum.

VEGETABLES2

Vegetables can be served hot or cold, but all will need to be cooked.

Fresh

  • Wash thoroughly.
  • Raw vegetables are difficult to chew, swallow, and digest.
  • Cook until tender and easily pierced with a fork.
  • Cut into small pieces, long thin strips, or grate.

Canned or Jarred

  • Be careful of the amount of sodium, choose low sodium if possible.
  • Rinse the can or jar before opening.
  • Can be served directly from the can, cut to appropriate size.

Frozen

  • Must be cooked until tender and cut to appropriate size.

**Be sure to discuss PHE or protein tracking an your child’s daily allowance prior to proving any new foods.

References:
1. American Academy of Pediatrics Web Site. Web. 03 Mar. 2010. http://www.aap.org/
2. Eat Right Stay Bright. Guide for Hyperphenylalanemia. L Bernstein and C Freehauf. Chapter 1. Pages 56-58

What is PKU?

What is PKU?

If you have PKU or your child with phenylketonuria is older, you may think this is a silly question, but even though you are living with and managing this metabolic condition on a daily basis, you may not completely understand what PKU is or be able to explain it to others.

There are some terms that you may or may not be familiar with. Learning these key terms will help you better understand or better explain why you follow a special low protein diet.

Art: In “medical terms’ Phenyketonuria (PKU) is an autosomal recessive genetic disorder that results in incomplete phenylalanine metabolism.

But in “REAL TERMS” what does this mean?

Let’s break it down:
Autosomal: a chromosome other than an X or Y sex chromosome
Recessive: a trait that appears only when a gene has been inherited from both parents
Genetic: hereditary characteristic that you get from your parents
Disorder: an abnormal condition
Phenylalanine: an essential amino acid (must be consumed, the body doesn’t make it) commonly referred to as “PHE”
Metabolism: the process in which your body breaks down particular substances

So in REAL TERMS:
PKU is an inherited genetic disorder that prevents the full breakdown of phenylalaine.

Did you know: (image) When phenylalanine builds up in the blood it is excreted in the urine as phenyketones. That is how this condition became known as PhenyKetonUria or PKU for short.


Posted by: Sandy Simons, MA, RD, CHES

Sandy is a Registered Dietitian and Certified Health Education Specialist. She received her graduate training at Columbia University’s Teacher College in New York. She has been working on the industry side of metabolic nutrition for the past 11 years and is often seen at patient events around the country. This post is also found in a book written by Sandy with the help of others titled: My PKU Toolkit: A Transition Guide to Adult PKU Management.