Heather Bausell, RD, LDN

Heather Bausell, RD, LDN

Registered Dietitian

Language: English


Specialties include genetics and metabolic nutrition.

Clinical Interests: Inborn errors of metabolism, PKU (phenylketonuria), Fatty Acid Oxidation Disorders (FAO), Urea Cycle Disorders

Education & Training

Education: Bachelor of Science in Dietetics, University of Illinois; Dietetic Internship, Medical University of South Carolina; Clinical Research CRC Training, Northwestern University


  • Use of glycomacropeptide (GMP) and sapropterin for the treatment of maternal PKU patients Palynziq (60mg dose) for the treatment of PKU
  • Gene therapy for the treatment of PKU
  • Triheptanoin (C7 oil) used for the treatment of long chain fatty acid oxidation disorders


  • Palynziq for Adults with PKU- GMDI Newsletter March 2019
  • Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria, Genetics in Medicine December 2018
  • Strategies for Successful Long-term Engagement of Adults with Phenylalanine Hydroxylase Deficiency Returning to the Clinic, Journal of Inborn Errors of Metabolism and Screening, Fall 2017
  • Making the Decision about a Gastrostomy Tube (G-Tube). MSUD Newsletter, Summer/Fall 2015
  • Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases the Phenylketonuria (PKU) Experience. Journal of Genetic Counseling, 9/2013
  • Recommendations for the use of sapropterin in phenylketonuria. Molecular Genetics and Metabolism, 7/2012
  • A new approach to re-engage adults through PKU boot camp. National PKU News, Fall 2011My PKU Binder, from Diagnosis to Adulthood, NPKUA, 8/2011
  • Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. The Journal of Pediatrics, 09/2010
  • Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU). Molecular Genetics and Metabolism, 10/2010


  • Pegvaliase Treatment Protocol and Patient Outcomes Experience of a Single PKU Treatment Center March 2019
  • Elicitation of Health State Utility Values in Phenylketonuria from a Modified Delphi Panel, March 2019
  • Exploring the Transition to Self-Care in Adolescents with Phenylketonuria, July 2018
  • Sapropterin dihydrochloride as sole treatment in patients with mild-variant Phenylketonuria, April 2018
  • Intravenous Sources of Medium Chain Triglycerides for Critically Ill Patients with Fatty Acid Oxidation Disorders, April 2018, September 2017
  • Review of Maternal Phenylketonuria Treatment Methods including Sapropterin and Glycomacropeptide, 2016
  • Boot Camp for Adults with Phenylketonuria (PKU): An Interdisciplinary Approach to Re-Engaging Adult Patients to Improve Metabolic Control, 2012
  • Comparison of Phenylketonuria (PKU) Patients’ Height, Weight and Body Mass Index (BMI) to the General Population, 2012
  • Treatment with Sapropterin Results in Increased Stability of Blood Phenylalanine (Phe) Levels in BH4-Responsive Patients with Phenylketonuria (PKU), 2010
  • High Incidence of Osteopenia and Vitamin D Deficiency in Patients with Phenylketonuria (PKU), 2010
  • Preliminary Analysis of Safety Data from the Sapropterin Expanded Access program for PKU, 2008
  • Identification of Sapropterin Responsive Phenylketonuria Patients in a Single PKU Clinic During an Expanded Access Program, 2008
  • Responsiveness to Sapropterin Dihydrochloride Therapy in Children with Classical Phenylketonuria, 2008

Call for Insurance information: 1.800.543.7362