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Glycogen Storage Disease: Type Ia
What is Glycogen Storage Disease: Type Ia?
Glycogen storage disease type Ia (GSD Ia) is an inherited disorder caused by the deficiency of an enzyme called glucose-6-phosphastase that prevents the body from completely breaking down food into energy. With defective enzyme function, individuals with GSD type Ia cannot maintain blood glucose levels during fasting and will develop low blood sugar. Symptoms become obvious as early as three to four months after birth and affected infants commonly present with low blood sugar, seizures, high lactic acid level, high uric acid and lipid levels in blood and enlarged liver. As they grow older, poor height and weight growth is noted. Kidney disease, high blood pressure in the lungs and decreased bone density are complications that can also occur as individuals grow older. With proper dietary management and careful medical surveillance, GSD Ia patients can live a normal lifespan. GSD Ia is caused by pathogenic variants in the G6PC gene.
How is Glycogen Storage Disease: Type Ia inherited?
GSD Ia is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.
What does it mean to be a carrier?
There are no signs or symptoms associated with being a carrier for GSD Ia. However, the risk to have a child affected with the disease is increased. Testing of reproductive partners is recommended for carriers of GSD Ia.
How common is Glycogen Storage Disease: Type Ia?
GSD Ia is common in the Ashkenazi Jewish population with a frequency of 1 in 20,000 newborns. This disorder is relatively rare in the general population, occurring in 1 in 100,000 newborns.
What is analysed?
Full gene sequencing
|Ethnicity||Detection Rate||Carrier Frequency|
|General Population||94%||1 in 177|