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Congenital Disorders of Glycosylation
Click here for information captured from Human Glycosylation Disorders Meeting held in San Diego, 2003.
- Because CDGs (congenital disorders of glycosylation) are recently described, thousands are likely to be undiagnosed.
A phone call from physicians in Germany propelled Professor Hudson Freeze into the clinical realm. Freeze had been studying a process in slime molds called glycosylation, the addition of sugars to proteins, and had found that cells isolated from people with rare disorders had defects in glycosylation mirroring those he had seen in mutant slime molds.
The call in 1996 came from doctors treating Max, a 6-year-old boy diagnosed with CDG (congenital disorders of glycosylation). Max was in critical condition due to internal bleeding his doctors could not stabilize. Freeze had found he could reverse glycosylation defects in cells by adding a sugar, mannose, to the culture medium. He and his colleagues had also devised a mannose "milkshake" and shown it was safe to drink. The mannose regimen stabilized Max's condition.
At least 25 different forms of CDG have been identified and sugar treatments can help people with several of them. Freeze consults regularly with the CDG Family Network, which was founded in 1996 and has grown to include 100 families.
