Glycogen storage diseases (GSD)
Glycogen storage diseases (GSD) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism.
These defects can lead to severe hypoglycemia, especially during periods of fasting.
Below, we explore some of the major glycogenoses that cause hypoglycemia:
GSD Type I (von Gierke’s Disease)
Von Gierke disease, or GSD type I, is caused by a deficiency of the enzyme glucose-6-phosphatase. This enzyme is crucial for the conversion of glucose-6-phosphate to free glucose, a final step in gluconeogenesis and glycogenolysis. Deficiency of this enzyme prevents the release of glucose from the liver into the blood, resulting in hypoglycemia.
GSD Type III (Cori’s or Forbes Disease)
GSD type III is caused by a deficiency of the debranching enzyme, which is crucial for the complete breakdown of glycogen. This disorder leads to the accumulation of borderline dextrins, an abnormal form of glycogen.
GSD Type VI (Hers Disease)
Hers disease, or GSD type VI, is caused by a deficiency of the enzyme hepatic phosphorylase, which is necessary for glycogenolysis. This deficiency results in the inability of the liver to break down glycogen into glucose.
GSD Type IX
GSD type IX is caused by deficiencies in the enzyme phosphorylase kinase, which is necessary for the activation of hepatic phosphorylase. This condition has several subtypes, depending on the gene affected.
GSD Type 0
Unlike other GSDs, GSD type 0 is caused by a deficiency of the enzyme glycogen synthase, which is necessary for glycogen synthesis. This results in an inability to store glycogen in the liver.
Did you know that some glycogen storage diseases can cause severe hypoglycemia if not properly managed?
Associations Glycogen storage disease
If you are looking for more information about glycogen storage diseases we recommend you to contact associations and patient groups. These are the associations that we know of that work for and with GSD…
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Did you know that continuous hypoglycemia can cause changes in brain structures?
YOU NEVER KNOW HOW STRONG YOU ARE,
UNTIL BEING STRONG IS YOUR ONLY CHOICE.
Bob Marley
Thanks to new technologies we can get information faster to its destination.
At The Hippo House, we want to put our efforts on families to find each other as quickly as possible.
Feeling supported at the time of diagnosis is paramount. Facing alone the “grief of the healthy child” is very, very difficult.
For that reason, we hope we have helped you in this road that you are starting to walk along.
Brain damage from continued hypoglycemia can cause learning difficulties, seizure disorders, vision problems, etc.
