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Deborah S. Barbouth, M.D.

General Information

Deborah S. Barbouth, M.D.


  • Fax: 305-243-3919


  • Pediatrics
  • Clinical Genetics(MD)-Medical Genetics


English, Hebrew, Portuguese, Spanish

Clinical Areas

Pediatric dysmorphology and metabolic disorders.

Special interest in neurodevelopmental disabilities, and lysosomal storage disorders.


  • American Board of Pediatrics
  • AB of Med Genetics & Genomics-Clinical Genetics & Genomics
  • AB of Med Genetics & Genomics-Clinical Biochemical Genetics


  • Clinical Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics

Research Interests

My main interests are in Lysosomal Storage Diseases, their diagnosis, treatment, and outcomes. In addition, I am involved with research into new developments in Newborn Screening.

Ongoing Projects

Improved Outcome of Prediction in Galactosemic Newborns

To test the hypothesis that total body oxidation of 13C-D-galactose to 13CO2 in breath is a diagnostic and prognostic test for galactosemia. To develop precommercial packaging of a diagnostic kit; an inexpensive cycloidal, gas, dual-isotope mass spectrometer, and normal values in the newborn and very young child.

  • Funded by: NIH 
  • Team Members: Dr. Louis J. Elsas, Dr. Virginia Carver, Dr. Deborah Barbouth, Ms. Darcy Velazquez 
  • Collaborators: Emory University, Advanced Breath Diagnostics LLC.

Center for Lysosomal Storage Disease

To diagnose and study the intervention of enzyme replacement therapy (ERT) for the following lysosomal storage diseases: Gaucher (ß glucosidase deficiency), Fabry (a-galactosidase deficiency), MPS-I/Hurler (a-Iduronisase deficiency), Pompe (acid maltase deficiency), and others.

We are unique in providing ERT both pre- and post- bone marrow/cord blood transplantation in our MSP1/Hurler patients. This is a novel approach with limited clinical experience, and is proving to be very promising in treating patients with reduced lysosomal enzyme activity. We have found that supplying ERT pre-transplant diminishes the toxicity of the procedure (as MPS1 patients tend to have cardiac and pulmonary/airway problems), and the ERT is continued for 2 months post transplant, when the new blood system is developing. Patients are responding well to this treatment.

  • Funded by: Genzyme Corporation
  • Team Members: Dr. Louis J. Elsas, Dr. Deborah Barbouth, Dr. Neil Weinreb, Dr. Gary Kleiner
  • Collaborators: Private physicians and hospitals in the community.
  • Recruitment Criteria: Patients with demonstrable specific Lysosomal enzyme deficiency.
Main Publications

Barbouth D., Slepak T., Klapper H., Lai, K, and Elsas L.J. (2006) Prevention of a molecular misdiagnosis in galactosemia. Genet Med 8(3): 178-182.

Barbouth D., Sacharow S., Wilkinson J., Elsas L.J. (2005) Medical Genetics and Teratogenicity: A Community Based Educational Intervention.

Presented at the Annual meeting of the American College of Medical Genetics, Dallas, TX.


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2005 Clinical Biochemical Genetics Fellowship
The Dr. John T. Macdonald Foundation Center for Medical Genetics, University of Miami Miller School of Medicine
2004 Medical Genetics Fellowship
Montefiore Medical Center
2002 Pediatrics Residency
Jackson Memorial Hospital
1998 M.D.
Universidad Maimonides


Educational Interests

I am involved in teaching and lecturing residents and medical students about genetic mechanisms and their applications to genetic disorders as seen in patients.

My colleagues and I have desgined a unique human medical genetics course that is given via teleconference. The pilot course was in collaboration with Ponce School of Medicine in Puerto Rico, and ran successfully with 72 students in April and May of 2006. This course, given in both English and Spanish, covered all major areas of medical genetics, and included interactive case presentations, small group discussions and a review workshop.

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