Glycogen Storage Diseases |Overview
The Boston Children’s Glycogen Storage Diseases Program is a multidisciplinary program for children and adults with knownglycogen storage diseases. We are part of theDivision 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; andmuscle 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 toclinical 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.Dr. Walla Al-Hertani, the director of the program, also serves on the scientific advisory board of theAssociation for Glycogen Storage Diseases(AGSD).