Inherited Metabolic Diseases Nutrition Department

Nutrition management for children and adults with confirmed diagnosis of inborn errors of metabolism

IMDfacultysm2

Casey Burns, Sommer Gaughan, Laurie Bernstein

The Inherited Metabolic Diseases (IMD) clinic is comprised of a multidisciplinary staff, internationally recognized for their expertise in relation to the diagnosis and treatment of various metabolic disorders. 

The IMD nutrition clinic includes three metabolic nutritionists and is the only clinic in the Rocky Mountain Region providing comprehensive metabolic nutrition services.

Nutritional services provided at the IMD nutrition clinic include follow-up of abnormal newborn screening results, nutritional management and education for both inpatients and outpatients with inborn errors of metabolism (IEMs).

Metabolic Nutritionists

Laurie Bernstein, MS, RD, FADA
Professor of Pediatrics
Director, IMD Nutrition
Phone: (303) 724-2341
Email: laurie.bernstein@childrenscolorado.org

Casey Burns, RD, CSP
Phone: (303) 724-2343
Email: casey.burns@childrenscolorado.org

Sommer Gaughan, RD, CSP
Phone: (303) 724-2348
Email: sommer.myers@childrenscolorado.org

Everybody Has Something

A book illustrating the differences among children ranging from pimples to Phenylketonuria (PKU).

 

Download Order Form

Inherited Metabolic Diseases: Visual Aids - A Visual Overview of Metabolic Disorders

MCADD: A Guide for Patients and Families

  • Individuals with medium chain acyl-CoA dehydrogenase deficiency (MCADD) do not have a properly functioning medium chain acyl-CoA dehydrogenase enzyme. Therefore, their bodies are not able to correctly convert fats into energy.
  • The purpose of this book is to provide a resource to help answer some of the questions associated with MCADD.
  • MCADD Booklet order form

 

Galactosemia: The Diet

  • Individuals with galactosemia have a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) that helps to metabolize galactose. Therefore, they must follow a galactose-restricted diet. Galactose is part of lactose, or “milk sugar” and so milk must be avoided. Galactose is also found in other foods as bound or free galactose. In addition, galactose can be produced endogenously, meaning the body makes some galactose on its own.
  • The purpose of this book is to review the sources of galactose in the diet, describe which foods are included in the diet, and provide tips for healthy eating while on a galactose-restricted diet. The dietary recommendations presented in this booklet are intended for all ages. During infancy, the foods on the Acceptable Foods and Ingredient List can be introduced at an appropriate age to begin solids. It is not necessary to wait until a child is older to introduce allowed foods.
  • Download Galactosemia Order Form

Galactosemia: School Age Children

  • This book is intended for parents with school age children who have been diagnosed with galactosemia due to a deficiency of the enzyme galactose-1-phosphate uridyltransferase or GALT. This book will provide helpful information to make the transition to school and eating away from home.
  • Download Galactosemia Order Form

Galactosemia: For New Parents

  • This book is intended for parents with infants who have been diagnosed with galactosemia due to a deficiency of the enzyme galactose-1-phosphate uridyltransferase or GALT. This book will provide an overview of the diagnosis and familiarize you with the diet for galactosemia.
  • Download Galactosemia Order Form

Galactosemia: Making Healthy Choices Activity Book

  • This tool is used to increase learning about calcium, vitamin D, fats, fiber, ingredient identification, nutrition facts, and more.
  • Download Galactosemia Order Form

Galactosemia: Making Healthy Choices Cookbook

Download Galactosemia Order Form

Mile High Low Protein Cooking

  • This book was designed specifically for patients with PKU and other metabolic disorders that require a low protein diet. It is a collaboration of recipes from the families of the IMD Clinic at Children’s Hospital Colorado, as well as a professionally trained chef from Johnson and Wales University, Laura Gilsdorf.
  • Also available on CD
  • Download the Mile High Low Protein Cooking book order form

PKU Adventure Game - A fun learning game used to assess and increase knowledge of PKU

Download PKU Board Game Order Form

PKU Educational Tools

Simply More Phe More Choices: Think Healthy!

An educational tool for patients and their families when selecting healthy foods on a phe-restricted diet.

Modules offered include:

  1. More Phe More Choices: Think Healthy! The Foundation
  2. More Phe More Choices: Think Healthy! Early Childhood ~ Sample Menu
  3. More Phe More Choices: Think Healthy! Teenagers ~ Sample Menu
  4. More Phe More Choices: Think Healthy PKU and Pregnancy ~ Sample Menu

Download Simply More Phe More Choices: Modules Order Form

MCT Procal – Imaginative Recipe Tools

  • A recipe book designed to provide nutrition information for the total fat and calories per serving in each recipe. The amount of MCT from the MCT Procal is given separately, and should be provided based on an individual’s diet prescription.

MMA/PA Module

  • An educational tool for patients and their families with methylmalonic acidemia or proprionic acidemia when choosing healthy foods on a protein restricted diet.
  • Download MMA/PA Order Form

Daily Guides

A tool for patients and their families when completing diet records.

Guides offered include:

Glutaric Acidemia
MSUD
Protein Limiting (Urea Cycle)
MMA/PA
PKU

Penny the Penguin has PKU

  • Winner of the 2014-2015 Creative Nutrition Education Award by the Academy of Nurition and Dietetics Pediatric Nutrition Practice Group, Penny the Penguin has PKU, is a children’s book aimed at helping children with their “diet for life” journey.
  • Click here to order Penny the Penguin has PKU

Genetic Metabolic Dietitians International

  • Membership provides opportunities for professional education and research, as well as networking and peer support.
  • Click here to learn more

Setting Up Your Low Protein Kitchen

  • “Setting Up Your Low Protein Kitchen is a practical . . . and fun . . . resource for anyone following a low protein diet.” Sandy van Calcar, PhD, RD. University of Wisconsin
  • Click here to learn more

The Simplified Diet

Download Simply More Phe More Choices: Modules Order Form

Location

The Low Protein Food Store is located in:

Children's Hospital Colorado
Outpatient Pavilion, 2nd  Floor
Room # B2102
13123 East 16th Avenue
Aurora, Colorado 80045

Store Telephone: (720) 777-9811

Hours of Operation:
Monday: 10:00 am - 12:00 pm

Orders

To place an order, please call:
(303) 724-2362 or (303) 724-2338

Print a copy of our Low Protein Food Store order form (.pdf)

Please send completed Low Protein Food Store order forms to:
Children's Hospital Colorado, IMD Clinic
13123 E. 16th Avenue, B153    
Attn: Nutritionist
Aurora, CO  80045  

NETWORK PKU

What is Network PKU?
Network PKU is a two day conference developed for and targeted to adolescents and adults with phenylketonuria (PKU) and their family members. “Network PKU” utilizes a culinary venue with didactic and interactive educational techniques and is the ultimate interactive low protein culinary experience.

Educational Video
Network PKU was designed as an educational video to increase awareness and enhance knowledge about the diet for Phenylketonuria in order to assist adolescents, teens, and adults to maintain a strong 'diet for life' attitude.

Conference
In 2004, the concept of Network PKU was expanded to become an interactive conference sponsored by Applied Nutrition and hosted by the IMD clinic at The Children's Hospital on the campus of Johnson & Wales University. The weekend featured a variety of interactive culinary and educational workshops designed to improve low protein cooking skills, increase knowledge about PKU treatment and allow attendees to share experiences of living on a PKU diet.

The overwhelming success of the 2004 event led to additional conferences in 2006, 2009 and 2011. The Network PKU Conferences have drawn attendees from all over the United States, Canada and Europe. Click here for a video regarding the 2011 Network PKU conference.

In 2013 Biomarin and the IMD Nutrition Dept. at Children’s Hospital Colorado sponsored the first regional meeting with Le Cordon Bleu in Boston, 2014 in Atlanta, and 2015 in Seattle. These regional events allowed local families the opportunity to experience Network PKU.


METABOLIC UNIVERSITY

What is Metabolic University?
With the implementation of expanded newborn screening and other advances in the field of metabolics, the need for healthcare professionals trained in the field of inborn errors in metabolism has increased. Diagnosis and management of these diseases requires an interdisciplinary approach. Dietitians, Nurses, Genetic Counselors and Physicians play critical roles in the care of these patients. Metabolic University is targeted to professionals who are new to the field or need a refresher course in the nutrition management of inborn errors.

Objectives
Through the use of lectures, group teaching, observations, and pre- and post- tests, participants of this conference gain knowledge in areas of metabolics ranging from the pathophysiology and primary offending metabolites in common disorders of metabolism, practical nutrition interventions commonly used, management issues in different disorders of metabolism, and become able to describe the use of tandem mass spectrometry in the identification of metabolites suggestive of disorders of amino acid, organic acid, urea cycle, carbohydrate, and fatty acid metabolism.

Registration
To register for the next conference please email, Laurie.Bernstein@childrenscolorado.org.


COURAGE CLASSIC - GENE TEAM

What is The Courage Classic?
A renowned cycling event in Colorado since 1989, the Courage Classic is a three-day journey fueled by individual and team fundraising efforts that benefit Children’s Hospital Colorado. More than 2,000 cyclists, hundreds of volunteers, and several sponsors and friends participate each year to support the greatest needs of Children’s Colorado. Beginning and ending in Leadville, this 157-mile course through Summit County during the summertime makes it one of the most picturesque cycling tours in the state.

The Gene Team
Laurie Bernstein, MS, RD, FADA captains this team because she is passionate about the children and families that the clinic takes care of. The Clinical Genetics and Metabolism section sees many families with various diagnoses and The Gene Team helps as many as they can. They help to provide life sustaining formula, special food, family conference attendance, camp, ropes course, and research. Last year was the 13th year and The Gene Team raised nearly $123,000. In total The Gene Team has raised more than $700,000!

Registration and Donations
For more information about the ride, including registration and donation information, click here.


METABOLIC CAMP IN WYOMING

What is Metabolic Camp?
Children with metabolic disorders and their parents have an opportunity to attend Low Pro camp at the VeeBar ranch in Laramie, Wyoming. Children with PKU, galactosemia, urea cycle disorders and methylmalonic academia enjoy horseback riding, hayrides, bonfires, an amazing metabolic race, fishing and many more adventures. The best part of the time spent at camp is watching both the children and the parents bond with each other. Mealtimes are especially rewarding when everybody tries new recipes and weighs and records what they eat, while all their peers are enjoying the same choices. The working guest ranch is a very friendly environment for families and people on special diets. The ranch is family owned and one of the owners is an adult patient with PKU and now a mom of a little girl with PKU. They are both patients at Children’s Hospital Colorado, IMD clinic.

What is Eat Right Stay Bright?

Eat Right Stay Bright is an anticipatory guidance tool, developed by Children's Hospital Colorado to aid healthcare professionals in the treatment of patients with PKU.

To download chapters click here:


Each chapter has sections that include:

  • Clinic Encounter Check Lists
  • Experiences and Thoughts
  • Teaching Aids and Handouts
  • Resources 

metabolic-university

Visit our Nutricia Metabolic Partners website for complete information.

  • Fatty Acid Oxidation Disorders
  • Glutaric Aciduria, Type 1
  • Glycogen Storage Disease 
  • Homocystinuria
  • Hyperphenylalaninemia and Phenylketonuria (PKU)
  • Maternal Amino Acid Disorders
  • Maternal Urea Cycle Disorders
  • Mitochondrial Disease
  • Organic Acid Disorders
  • Overview, Current Research and Findings, Case Studies, Emerging Treatments and Nutrition Management of Phenylketonuria and Maternal Phenylketonuria
  • Overview and Current Research and Findings, Case Studies, Emerging Treatments and Nutrition Management of Galactosemia

Educational Activity Learning Objectives

  • Upon completion of this activity, the participants should be able to:
  • Describe the impact of elevated Phe on long-term patient outcomes
  • Recognize the critical importance of therapeutic adherence and new treatment options available
  • Discuss current therapeutic guidance in the treatment of PKU
  • Explain the dietary implications of current and emerging treatment options