Presenters:

Debra-Lynn Day-Salvatore
MD, PhD
Director, Institute for Genetic Medicine
St Peter's University Hospital
New Brunswick, NJ

Priya Kishnani, MD
Associate Professor of Pediatrics
Duke University Medical Center
Durham, NC

Joseph Muenzer, MD, PhD
Associate Professor of
Pediatrics & Genetics
Department of Pediatrics
University of North Carolina
at Chapel Hill, NC

Moderator:

Alan Percy, MD
Director, Clinical Neuroscience
Civitan International Research Center
University of Alabama at Birmingham
School of Medicine

Over 40 specific Lysosomal Storage Disorders caused by inborn errors of metabolism affect 1 in 7,700 live births. The genetic defect results in the deficiency of a particular enzyme, which results in the accumulation of a specific substrate in the lysosomes of affected tissue. These sessions will cover the pediatric disabilities that are manifest in two such disorders: Pompe Disease and MPS I. Pompe disease is a fatal muscle disorder caused by an underlying deficiency of the lysosomal hydrolase acid alpha-glucosidase (GAA). Mucopolysaccharidosis I (MPS I) is an autosomal recessive disease with pathologic manifestations in multiple organ systems and tissues. Mucopolysaccharidosis I (MPS I) is historically referred to as Hurler, Hurler-Scheie, or Scheie syndromes.

Ask the Experts Questions before, during & after the event!
See their Answers