Areeg El-Gharbawy, M.D.

  • Research Assistant Professor of Pediatrics
  • Clinical and Biochemical Geneticist

Major Lectureships and Seminars


  • Fatty Acid Oxidation Disorders,” Endocrine Seminar, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, Pa., 2016 
  • “Clinical and Translational Insights in Pompe Disease: Disease Pathology, Patient Identification, and Treatment,” Pompe Disease Continuing Medical Education Symposium, American Society of Human Genetics meeting, Orlando, Fla., 2017 
  • “Energy Defects: More to Learn, More To Do,” molecular medicine grand rounds, Oregon Health and Science University, Portland, Ore., 2017 
  • “Understanding the Underlying Mechanisms Involved in Energy Defects Associated With Overlapping Features,” Molecular Medicine Research Symposium, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, Pa., 2017 
  • “Glycogen Storage Disorders: Overview and Updates,” endocrine grand rounds, University of Pittsburgh, Pittsburgh, Pa., 2017 
  • “Study of the Relationship Between Fatty Acid Oxidation, the Electron Transfer Chain, and Cardiolipin in Patients’ Cells with LCHAD/TFP Deficiency and Barth Syndrome: Implications for New Patho-Mechanisms and Therapeutic Targets,” United Mitochondrial Foundation  meeting, Alexandria, Va., 2017 
  • CME Initiative Improving Care for Patients with Pompe Disease: A Look at Emerging Therapies and Multidisciplinary Management Strategies delivered at the American College of Medical Genetics meeting  (ACMG) April 2019, Seattle, WA 


  • “The Biochemical Basis for Overlap of Clinical Features of LCHAD/TFP Deficiency With Mitochondrial Respiratory Chain Defects: Implications for New Therapeutic Approaches,” International Congress of Inborn Errors of Metabolism, Rio de Janeiro, Brazil, 2017 
  • “Novel Mechanisms of Pathogenesis in Mitochondrial Trifunctional Protein Deficiency: Implications for Clinical Outcome and Treatment,” International Congress on Inherited Metabolic Disorders, Rio De Janeiro, Brazil, 2017 
  • Targeting Cardiolipin: a new therapeutic approach to treat long chain hydroxyacyl CoA dehydrogenase and mitochondrial trifunctional protein deficiencies. Abstract oral presentation at the Society for Study of Inborn Errors of Metabolism (SSIEM), 4-7 September, Athens, Greece 2018.  
  • Management and follow up of two patients with Infantile liver failure syndrome type I (ILFS1) caused by LARS mutations: an under-recognized reversible multisystem metabolic liver disorder. Abstract poster presentation at the Society for Study of Inborn Errors of Metabolism (SSIEM), 4-7 September, Athens, Greece 2018 
  • Keynote speaker 4th Annual International Pediatric Medical Congress 15-17 Nov 2018 Dubai, UAE  

Professional Affiliations/Society Memberships

  • Society for Inherited Metabolic Disorders 
  • American Medical Association 
  • Fellow of the American College of Medical Genetics 

Advisory Committee Memberships 

  • Scientific advisory board member, Association for Glycogen Storage Disease 
  • Synlogic, Inc., consultant for urea cycle disorder research 

Study Section and Journal Reviewer 

  • Grant reviewer to Netherlands Organization for Scientific Research 
  • Innovational Research Incentives Scheme Vidi – Health Research and Development (ZonMw) 
  • Reviewer: Journal of Inherited Metabolic Disease 
  • Reviewer: Journal of Molecular Genetics and Metabolism 
  • Reviewer: Mitochonrion 
  • Reviewer: Human Molecular Genetics 

Education & Training

  • MD: Cairo University - Faculty of Medicine Cairo, Egypt
  • Residency: Cedars-Sinai Medical Center Los Angeles, CA
  • Residency: Medical College of Wisconsin Milwaukee, WI
  • Residency: National Institute of Health Bethesda, MD
  • Residency: Cairo University - Faculty of Medicine Cairo, Egypt
  • Fellowship: Medical College of Wisconsin Milwaukee, WI
  • Fellowship: Duke University Medical Center Durham, NC

Research Interests

Bench research in the Vockley lab: Dr. El-Gharbawy’s current research focuses on the study of cell lines from patients with long chain hydroxyacyl-CoA dehydrogenase (LCHAD)/Trifunctional Protein (TFP) deficiency, and Barth syndrome (BS) who share overlapping features including cardiomyopathy, fatigue, exercise intolerance, hypoglycemia and lactic acidosis, to study the relationship between derangements in cellular bioenergetic pathways induced by these disorders. She has been in the unique position as a clinician and researcher to collect surgical samples of tissues from these patients for further study in the Vockley laboratory. Dr. El-Gharbawy has hypothesized that mutations in TFP have altered cardiolipin levels, leading to destabilization of mitochondrial supercomplexes, increased reactive oxygen species (ROS) and cellular bioenergetics dysfunction. Her preliminary results using a new cardiolipin stabilizing peptide (other than bendavia) are exciting and encouraging in regards to novel mechanisms involved and availability of new treatments that target the mitochondria and stabilize cardiolipin. Results of her work have been accepted and presented at national and international scientific meetings in 2017 and 2018. 

Clinical Research and Care: Dr. El-Gharbawy has received an investigator-initiated grant by Ultragenyx Pharmaceuticals for a clinical trial to study the use of the novel anaplerotic agent triheptanoin in patients with glycogen storage disease type 1. She continues to care for patients with different forms of glycogen storage disease. Furthermore, she has developed a leading role in optimizing the care of patients with different forms of glycogen storage disease (GSD). At CHP, she collaborates with the division of endocrine to improve the quality of life of these patients by implementing the use of continuous glucose monitoring; and initiating an overnight glycosade protocol which incorporates a one dose modified form of cornstarch that maintains glycemia for 6-8 hours instead of continuous night time feeds or repeated dosing of cornstarch at night.  Dr. El-Gharbawy is a productive member of the Association of Glycogen Storage Disease Advisory Board, through which she has given platform presentations and workshops for patients and their families. She has played an active role in writing and reviewing consensus guideline papers for the management of different forms of glycogen storage disease. As a result of her efforts, CHP has become recognized nationally as a center of excellence in treating glycogen storage diseases and the number of patients followed in the division with this diagnosis has expanded dramatically.  Dr. El-Gharbawy has developed expertise in managing patients with infantile liver failure syndrome type 1 due to LARS mutations, an ultra-rare multisystem genetic disorder. The high protein dietary regimen she has designed for these patients has kept them thriving, and due to their clinical stability, they have been able to avoid a liver transplant.  Dr. El-Gharbawy continues to see evaluate and treat patients as a co-investigator on multiple industry-sponsored clinical trials being conducted in the medical genetics division on novel pharmaceuticals for inborn errors of metabolism. They include trials that address new therapies for patients with PKU; fatty acid oxidation and glycogenosis disorders; hypophosphatasia; urea cycle disorders; and lysosomal storage disorders, including Pompe, Fabry, Gaucher disease, and Mucopolysaccharidoses. 

Research Mentorship: Dr. El-Gharbawy has continued to mentor medical students and fellows interested in medical education research, clinical research and quality improvement projects.  Under her supervision, multiple quality improvement projects have been conducted by Medical Genetics residents to improve the quality of care delivered to patients with inborn errors of metabolism. These projects focused on development of clinical effectiveness guidelines for evaluation and management of patients with inborn errors of metabolism and metabolic acidosis in the ER, and assessment of ER residents’ awareness of these diseases. These projects have helped increase the awareness among the ER faculty about the needs of metabolic patients and fostered the availability of necessary IV infusions in the emergency room, as well as assessed the effectiveness and safety of using continuous glucose monitoring to improve the care of patients with glycogen storage disease type 1.  Dr. El-Gharbawy is currently continuing to work in collaboration with Dr. Benjamin Miller on introducing inborn errors of metabolism modules into the Pediatric Residents Curriculum. 

Research Grants

  • Anaplerotic Therapy Using Triheptanoin for Patients with Glycogen Storage Disease Type I. Principal Investigator-initiated research funded by Ultragenyx, 2018 
  • Research grant award, Promoting Academic Talent in the Health Sciences, 2014