The Boston Children’s Glycogen Storage Diseases Program is a multidisciplinary program for children and adults with known glycogen storage diseases. We are part of the Division of Genetics and Genomics. In addition we are one of the sites for the first-in-human gene therapy clinical trial to treat glycogen storage diseases type 1a in both children and adults.
Glycogen storage diseases are inborn errors of metabolism caused by missing enzymes, leading to stored glycogen in the body that cannot be metabolized into glucose to supply energy. Symptoms can include enlargement of the liver (hepatomegaly); kidney (nephromegaly); elevated levels of lactate, uric acid, and lipids; delayed growth and development; osteoporosis; and muscle weakness, to name a few.
Why Boston Children’s Hospital?
We offer integrated, individualized, multidisciplinary inpatient and outpatient care for all patients with glycogen storage diseases, as well as access to clinical trials. In addition, our team maintains close ties with all family support groups and patient advocacy groups who provide families facing similar challenges with additional support and helpful educational information. Walla Al-Hertani, MD, MS, FRCPC, FCCMG, FACMG, the director of the program, also serves on the scientific advisory board of the Association for Glycogen Storage Diseases (AGSD).