The type of CDGS was not specifically mentioned in your letter.
CDGS Type IA is the best described of the six known types.
Approximately 50 percent of young children with CDGS have periods of stupor, lethargy, visual difficulties, paralysis, and seizures that often accompany fevers or infections.
Please remember as you read all these symptoms, however, that the way that CDGS presents in different individuals is highly variable.
Most adolescents and adults with CDGS are short in stature.
In addition, the genetic mutations that cause CDGS Types I and II can now be detected in carriers.
Treatment for CDGS is primarily supportive and focuses on the child's specific clinical findings and symptoms.
1) Nonstandard abbreviations: GOD, glucose oxidase; CDGS
, carbohydrate-deficient glycoprotein syndrome; GK, glucokinase; G6PDH, glucose-6-phosphate dehydrogenase; HK, hexokinase; PGI, phosphoglucose isomerase; PMI, phosphomannose isomerase; CAT, catalase; NAM, NADP-ATP-Mg[Cl.