Glycogen storage disease type 1C
Glycogen storage disease type 1C (GSD 1C) is a rare genetic disorder that affects the body's ability to regulate and break down glycogen, a stored form of glucose. This disease is one of the subtypes of Glycogen storage disease type I (GSD I), also known as von Gierke disease.
Overview[edit | edit source]
GSD 1C is caused by mutations in the SLC37A4 gene, which provides instructions for making a protein that is involved in the regulation of glucose production in the liver. This protein is responsible for transporting glucose-6-phosphate from the cytoplasm into the lumen of the endoplasmic reticulum, where it is converted into glucose. Mutations in the SLC37A4 gene disrupt this process, leading to the accumulation of glycogen and fat in the liver and kidneys, which can cause these organs to enlarge and can affect their function.
Symptoms[edit | edit source]
The symptoms of GSD 1C typically appear in infancy or early childhood and can vary in severity. They may include hypoglycemia, lactic acidosis, hyperlipidemia, and hepatomegaly. In some cases, affected individuals may also develop gout, kidney disease, and pulmonary hypertension.
Diagnosis[edit | edit source]
The diagnosis of GSD 1C is typically made based on the clinical symptoms, laboratory findings, and confirmed by genetic testing. The laboratory findings may include low blood glucose levels, high levels of lactic acid, and elevated levels of triglycerides and cholesterol.
Treatment[edit | edit source]
The treatment for GSD 1C is primarily aimed at maintaining normal blood glucose levels and preventing hypoglycemia. This is usually achieved through a carefully managed diet that includes frequent meals and a slow-release form of glucose taken at night. In some cases, medications may be used to manage symptoms such as high levels of uric acid or triglycerides.
Prognosis[edit | edit source]
With appropriate management, individuals with GSD 1C can lead a normal life. However, they may have a higher risk of developing long-term complications such as kidney disease, liver tumors, and osteoporosis.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Glycogen storage disease type 1C is a rare disease.
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