What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
Glycogen Storage Disease Type 1A
What Your Test Results Mean:
Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of glycogen storage disease type Ia for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
Glycogen storage disease type IA is an inherited metabolic disorder that causes harmful amounts of glycogen and fat to accumulate in the liver and kidneys. Individuals with glycogen storage disease type IA do not produce enough glucose-6-phosphatase, an enzyme needed to metabolize glucose-6-phosphate into glucose. This causes severe hypoglycemia that can lead to seizures and brain damage. Some infants with glycogen storage disease type IA present with severe hypoglycemia, while others present at 3-4 months of age with hepatomegaly, lactic acidosis, and/or seizures. Long-term complications of untreated glycogen storage disease type IA include neurocognitive symptoms, anemia, short stature, osteoporosis, delayed puberty, gout, renal disease, pancreatitis, and risk for hepatocellular carcinoma later in life.
With early diagnosis and appropriate treatment and management, prognosis is typically favorable. Many affected individuals live into adulthood with appropriate treatment, including normal growth and puberty. Early treatment may also decrease the development of gout, kidney failure, life threatening low blood sugar, and liver tumors.
A diet low in fructose and sucrose, overnight glucose infusion, cornstarch therapy, and frequent daytime feedings are treatment options to prevent hypoglycemia. Liver transplantation has been used to restore metabolic balance and reduce the risk for hepatocellular carcinoma. Treatment typically includes care by a metabolic team to monitor medical complications and nutrition.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results