Metabolic Disorders - Nutrition Support Services

Kids at a patio table with strawberries

CHOC metabolic nutritionists develop individualized nutritional plans for patients who have metabolic disorders, such as phenylketonuria (PKU), organic acidemias, urea cycle disorders, galactosemia and carbohydrate metabolism such as glycogen storage disorders (GSD).

We treat patients of all ages, including pregnant women who have a metabolic disorder to ensure they receive optimal care during their pregnancy.

The CHOC Difference

Our dietitians are an important part of your child’s care team and work closely with CHOC metabolic doctors. At CHOC, metabolic nutrition services include:

  • Evaluation of patient’s current nutritional status
  • Reviewing nutritional history from patient or parent
  • Developing nutritional treatment plans by correlating lab results with intake of target nutrients
  • Nutrition services for pregnant women who have a diagnosed metabolic disorder
  • A dedicated PKU program in the Orange and Corona locations
  • Special PKU cooking classes are occasionally offered by a trained chef with knowledge of low protein diets
  • A dedicated GSD program in the Orange location.

Specialized Expertise

Phenylketonuria (PKU) PKU is also known as PAH (phenylalanine hydroxlyase deficiency). Individuals with PKU are unable to process the amino acid phenylalanine, which is an essential amino acid found in many typical protein-rich foods. Some nutritional guidelines include:
  • A special low-protein diet followed throughout life to restrict intake of phenylalanine.
  • Avoiding milk, fish, cheese, nuts, beans or meat, as these foods are very high in protein. Foods low in protein, such as breads, cereals and grains may be eaten in small quantities, as well as low-protein specialty foods.
  • Phenylalanine-free formulas, drinks and foods (medical foods) are an essential part of the nutritional treatment for PKU and are recommended for patients of all ages to assure a nutritionally complete diet.
  • Specific mineral and vitamin supplements may be needed to make up for missing nutrients in the diet.
  • Children and adults with PKU need to avoid the sugar substitute- aspartame and must read food labels to avoid sodas or any other products that contain it.
Glycogen Storage Disease Glycogen storage disease (GSD) nutritional support will depend on the type of GSD and the symptoms. The treatment goal is to maintain normal blood glucose levels. Dietary guidelines for common types of GSD include:
  • GSD Type I: Frequent meals and snacks are given throughout the day. Foods that are high in fructose are eliminated and galactose and lactose are limited. Cornstarch (uncooked) is introduced after the age of 1 to provide a steady slow-release form of glucose throughout the day.
  • GSD Type III: Frequent meals and snacks are given throughout the day to maintain blood normal blood glucose levels. High-protein foods are the cornerstone of the diet as the patient gets older.

Brighter Futures for Families with PKU

Family in the kitchen making a salad

CHOC dietitians discuss phenylketonuria, a rare genetically-inherited disorder that occurs in one in 10,000 to 15,000 newborns in the United States.

Low-Protein Cooking With Chef Kevin

CHOC partnered with Chef Kevin Brown to create low protein cooking classes for families affected by metabolic disorders requiring a low protein diet as part of their treatment. Metabolic disorders requiring protein restriction include aminoacidopathies, including PKU (phenylketonuria), HCU (homocystinuria), MSUD (maple syrup urine disease), TYR (tyrosinemia), UCD (urea cycle disorders), as well as organic acidemias. Cooking low protein recipes, as shown in these videos, allows for greater variety and flavor, and also helps families cut costs on expensive specialty foods.