What is GSD-III?

What is GSD-III?

Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.

What is Cori disease a deficiency of?

Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes. It is also known as Cori’s disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori.

Who discovered GSD III?

The first patient with GSD type III (GSD-III) was described in 1928 by the Dutch pediatrician Simon van Creveld. He described a 7-year-old boy with marked enlarged liver, obesity and small genitals. The fasting blood glucose concentration appeared to be very low, and concentrations of ketone bodies in urine were high.

What is the treatment for glycogen storage disease?

Treatment consists of taking regular doses of uncooked cornstarch and/or nutrition supplements. Cornstarch is a complex carbohydrate that is difficult for the body to digest; therefore it maintains normal blood sugar levels for a longer period of time than most carbohydrates in food.

What is the life expectancy of someone with glycogen storage disease?

What is the prognosis for an individual with Glycogen Storage Disease Type Ia? With careful monitoring of diet and blood sugar levels, individuals with GSDIa typically have normal growth and live into adulthood. Without close monitoring of the diet, extremely low blood sugar levels can be fatal.

Would a liver transplant cure all the symptoms of Type III glycogen storage disease?

Liver transplantation will cure the fasting intolerance-associated hypoglycemias in both GSD IIIa and GSD IIIb. However, the (cardio)muscular enzymatic defect persists in individuals with GSD IIIa.

What is Cori or Forbes disease?

Forbes’ disease, also called Cori’s disease, or glycogenosis type III, rare hereditary disease in which the the metabolic breakdown of glycogen to the simple sugar glucose is incomplete, allowing intermediate compounds to accumulate in the cells of the liver.

What kind of disease is V?

Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

What causes GSD?

Glycogen storage disease is passed down from parents to children (hereditary). It happens because both parents have an abnormal gene (gene mutation) that affects a specific way that glycogen is stored or used. Most GSDs occur because both parents pass on the same abnormal gene to their children.