Glycogen Storage Disease Type I (GSD-I) | Von Gierke Disease

Diagnosis of Glycogen storage disease type I

Your child’s doctor will order some laboratory investigations to detect symptoms of GSDI, such as:

• Blood glucose level to detect hypoglycemia
• PH, which is low due to high levels of lactic acid and uric acid
• Cholesterol and triglycerides levels
• Complete blood picture to detect iron deficiency anemia and infection
• Renal function tests: increased level of urea and creatinine in chronic kidney disease

Also, your child’s doctor may ask for special tests, such as:

• Ultrasound to show the size of the liver and kidney and detect if you have liver adenomas or not
• Bone mass destiny to show changes in the bone
• Liver biopsy to show increased glycogen and fat levels in the liver cells

When your child’s doctor suspects GSDI, he will ask you to do a molecular genetic test for your child to confirm the diagnosis.