Longitudinal Studies of the Glycoproteinoses

This project seeks to obtain clinical and laboratory information about individuals affected with a glycoprotein storage disorder including aspartyglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis.

Study Participation

Eligible participants include individuals that have been diagnosed with a glycoprotein storage disorder.

For more information, please contact Dr. Sara Cathey, project investigator, at 1-866-588-4363 (toll free) or scathey@ggc.org

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Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...
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