Center for Clinical Genetics
and Genomics

Areeg El Gharbawy, MD

Areeg El Gharbawy, MD
Position
  • Research Assistant Professor of Pediatrics,¬†University of Pittsburgh School of Medicine
Education
  • Board certified in Clinical Genetics, Clinical Biochemical Genetics, and Endocrinology, Diabetes & Metabolism, and Internal Medicine
  • MD, Cairo University – Faculty of Medicine Cairo, Egypt
  • Residency, Cairo University – Faculty of Medicine, Cairo, Egypt¬†,
    National Institute of Health Bethesda, MD
    Cedars-Sinai Medical Center Los Angeles, CA
    Medical College of Wisconsin, Milwaukee, WI
  • Fellowship, Medical College of Wisconsin Milwaukee, WI,
  • Fellowship, Duke University Medical Center Durham, NC
Research Interests

I am interested in optimizing treatment for patients with inborn errors of metabolism, as well as studying the natural history of disorders of fatty acid oxidation (FAO), glycogen storage, and lysosomal storage disease. I am focused on characterization of the clinical spectrum of late-onset Pompe disease, describing new genes and clinical findings as well as modifying and developing new therapies.

I am co-investigator on multiple clinical trials related to the clinical treatment of energy deficiency disorders involving fatty acid and glycogen storage disorders, lysosomal storage disorders (Gaucher disease, Fabry disease), urea cycle disorders, hypophosphatasia, orotic aciduria, and phenylketonuria as well as on a sub-study entitled Physical and Functional Integrity of FAO and Mitochondrial Electron Transfer Chain After Disrupting Mitochondrial Trifunctional Protein.

Publications

PubMed

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