The lysosomal storage disorders program provides evaluation and diagnosis for children and adults with known or suspected lysosomal storage disorders. This includes disorders such as Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidoses. Treatment is available for many lysosomal storage diseases by infusion of a genetically engineered enzyme that is missing in affected individuals. This treatment and ongoing management is provided by UAB Genetics for children and adults with Gaucher disease and mucopolysaccharidoses, children with Fabry disease, and adults with Pompe disease. Children with Pompe disease and adults with Fabry disease are referred to other specialists at UAB for management and treatment.
Appointments are available on Monday through Wednesday (for initial evaluations), with treatments arranged at patient's convenience. If you have questions about this program, please contact either Dr. Maria Descartes (205-934-4973) or Ms. Fallon Brewer (205-934-5384).
First, second, and fourth Monday of each month, 1:00–4:00 p.m.
Kaul Human Genetics Building
720 20th Street South
Birmingham, AL 35233
Make an Appointment
(205) 934-1154 or, toll-free, 1-866-822-4362