New perspectives of glycogen storage disease / 国际儿科学杂志

ABSTRACT

Glycogen storage diseases (GSD) are a group of inherited disorders characterized by enzyme defects that affect the glycogen metabolism. Hypoglycemia, hepatomegaly, splenomegaly and growth retardation are the main clinical manifestations. The enzymes affecting glycogen synthesis and degradation are varied.Consequently, the clinical manifestations are different because of different enzyme defection. Most patients treated regularly can obtain the normal growth and grow to adults, but still can be accompanied long-term complications by adulthood. Now some scientists find new modified cornstarch is superior to standard therapy in maintaining blood glucose levels. Gene therapy is still in the experimental animals.