Glycogen Storage Disease Program
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Metabolic Disorders Referrals
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CHOC offers the only dedicated and multidisciplinary program in California for the treatment of glycogen storage disease (GSD), a rare condition that changes the way the body uses and stores glycogen.
At CHOC, children with GSD receive comprehensive and coordinated treatment. In a single visit, patients and their families will see a board-certified biochemical metabolic doctors, a specialized dietitian and a social worker, all of whom have expertise to collectively manage GSD.
Learn more about the CHOC Metabolic Disorders Program
The CHOC Difference
- A dedicated GSD program for our patients so that we can provide better resources and care to our patients and families
- A comprehensive team of specialists who have expertise treating children with GSD, including board-certified biochemical metabolic disorder doctors, specialized metabolic dietitians and a social worker
- GSD metabolic dietitians that understand the difficulties of a GSD diet, and provide counseling and dietary recommendations
- A single-care setting for all diagnostic and treatment planning, for the convenience of families
- A dedicated metabolic laboratory that provides accurate and rapid test results. This can be especially important with a progressing metabolic disorder.
- Continuity of care to our patients as they get older, including medical care and monitoring during pregnancy
- Close coordination with your child’s referring pediatrician and subspecialists
- The opportunity for families to participate in clinical and bench research as we work to discover new and better treatments for GSD
- A holistic approach to treatment: we keep your child’s current and future health in mind and prepare for meaningful survivorship into adulthood
- Recognition as a NORD Rare Disease Center of Excellence by the National Organization for Rare Disorders, a distinction given to only 31 hospitals in the nation.
Charlotte’s Story: Diagnosing a Rare Disease
After years of searching for answers, Charlotte is now thriving after being diagnosed with glycogen storage disease, a rare and deadly disease, by Dr. Richard Chang and the CHOC metabolic disorder team.