Children's Hospital Colorado

At Children’s Hospital Colorado, we treat the big things, the small things and everything in between.



The Inherited Metabolic Diseases (IMD) Clinic consists of a multidisciplinary team dedicated to providing family focused care to children and adults with known or suspected inborn errors of metabolism. The clinic is recognized internationally for its expertise relative to diagnosis and treatment of metabolic disorders. It is the only clinic in the Rocky Mountain Region providing comprehensive metabolic services.

The clinic provides diagnostic evaluations and therapeutic management of individuals of all ages in whom a metabolic disorder is diagnosed or considered. Early diagnosis and treatment of inborn errors of metabolism may help prevent developmental delays, organ damage, and, in some cases, death.

Follow-up of Abnormal Newborn Screen Results

The Colorado Department of Health (CDH) tests approximately 75,000 Colorado and Wyoming newborns each year. CDH reports to the IMD Clinic all positive newborn screening results for phenylketonuria, galactosemia, and biotinidase deficiency. The IMD Clinic provides follow-up and long-term care for these individuals.

Diagnostic Evaluation of Patients with Suspected Inborn Errors of Metabolism

The IMD Clinic staff evaluates patients for whom concern regarding an inborn error of metabolism has been raised. The evaluation process includes review of clinical and laboratory findings, plus family history information. Recommendations for additional evaluation are provided.

Ongoing Care of Patients with Inborn Errors of Metabolism

The IMD Clinic consists of a multidisciplinary team that provides ongoing patient/family healthcare services. This includes teaching and support, genetic counseling, and diet management.

Inpatient and Outpatient Consultations

The IMD Clinic physicians are available for inpatient and outpatient consultations for physicians in the Rocky Mountain Plains Region. Diagnostic and/or management concerns can be addressed.

Nutritional Management

The metabolic nutritionists develop individualized plans of dietary treatment for each patient who has a confirmed diagnosis that is managed by diet. This includes disorders of amino acids, organic acids, and carbohydrate metabolism. They evaluate the patient's current nutritional status, obtain nutrition history from patient/parents, and develop dietary treatment plans by correlating blood levels with intake of target nutrients.

Genetic Counseling

The IMD Clinic provides genetic counseling and education related to inborn errors of metabolism. This may include an explanation of the patient's diagnosis, mode of inheritance, risk of recurrence in future children or grandchildren, and information regarding prenatal diagnosis if applicable.

Lysosomal Disorders Program

The Lysosomal Disorders Program is a collaborative effort between The IMD Clinic at Children's Hospital Colorado and the Adult Medical Genetics Program at the University of Colorado Health Sciences Center. Together, we serve individuals with lysosomal storage disorders and their families.  There are approximately 40 known lysosomal storage disorders including Gaucher disease, Fabry disease, and mucopolysaccharidoses (MPS disorders) such as Hurler, Sanfilippo and Morquio syndromes. The Lysosomal Disorders Program is a comprehensive program providing diagnosis, management, treatment, education, and genetic counseling for these disorders. Currently, the program is involved in the coordination of clinical enzyme replacement therapy, recruitment and entry into disease registries, and participation in clinical research trials.

Website resources for Lysosomal disorders:

  • MPS Society
  • Lysosomal Storage Disease Network
  • CU Fabry Disease Information
  • International Center for Fabry Disease
  • National Niemann-Pick Disease Foundation
  • National Gaucher Foundation
  • National Tay-Sachs and Allied Diseases Foundation

Low Protein Food Store

The IMD Clinic offers a Low Protein Food Store as a service to our families. The store carries a variety of low-protein products. We are currently not equipped to take on-line orders.

You can print a copy of our Low Protein Food Store order form (.xls) and mail it to:

Children's Hospital Colorado
Low Protein Food Store
13123 E. 16th Avenue
Aurora, CO 80045

Contact us

Inherited Metabolic Diseases Clinic
Phone: 720-777-0020
Fax: 720-777-7322