Glycogen storage disease ixa

Glycogen storage disease type IXa (GSD IXa) is not on the newborn screen test. Your doctor can order testing for GSD IXa if you have a family history of GSD IXa, if you and your partner are known to be carriers for GSD IXa or if your child begins showing symptoms of GSD IXa.

Glycogen storage disease IXa can be diagnosed either with a blood test looking at enzyme levels, a blood test to look for genetic changes, or by a liver biopsy.

If you have a child with glycogen storage disease type IXa (GSD IXa), your other children should be tested for GSD IXa. It is important to diagnose GSD IXa as early as possible, to help your children grow healthy and well.

If your child has glycogen storage disease type IXa (GSD IXa), it is likely that their genetic change came from their mother. Some women are "carriers" for GSD IXa. Carriers are people who do not have glycogen storage disease type IXa health problems themselves, but can pass on genetic changes which cause GSD IXa. Some female "carriers" of GSD IXa may have milder features of the condition including short stature, a mildly enlarged liver and episodes of hypoglycemia. The sisters of the mother of the child (the child's maternal aunts) may also be carriers for GSD IXa. They can speak to a genetic counselor about their chances of having a child with glycogen storage disease type IXa.

Glycogen storage disease type IXa (GSD IXa) is a type of glycogen storage disease. Infants with glycogen storage diseases are unable to use or store glycogen. Instead of providing energy between meals, the glycogen builds up and causes problems throughout the body. The health problems seen in GSD IXa can look like those seen in the other forms or subtypes of glycogen storage disease. Doctors can test the baby's blood or a piece of liver tissue to definitively diagnose glycogen storage disease type IXa.

Females can have GSD IXa due to skewed X-inactivation. Females have two copies of the X-chromosome. Therefore, in each copy of every cell in the body, one of these X-chromosomes is inactivated so that only one copy of the X-chromosome provides instructions to that cell. This is normally a random process. However, in some females, the X-chromosome that is inactivated in a preferential manner. This is known as skewed X-inactivation. When skewed X-inactivation occurs, the X-chromosome with the genetic change for GSD IXa may be inactivated in the majority of the cells in the body and a female is considered in unaffected carrier. X-inactivation can also be skewed so that the majority of the cells in the body only see or can read the instructions from the X-chromosome that has the genetic change for GSD IXa. Because of this, some females with a GSD IXa gene change may exhibit mild to more severe features of GSD IXa.