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GLYCEROL KINASE DEFICIENCY
This defect is related with an enzyme called the glycerol kinase. It is a rare genetic problem that also has symptoms like osteoporosis as well as learning disabilities and myopathy as well as adrenal cortex insufficiency. This condition can also lead to seizures.
HOW IS GLYCEROL KINASE DEFICIENCY DIAGNOSED?
The diagnosis of GH deficiency may be confirmed by a decrease in GK enzymatic activity and/or identification of a GK gene mutation or deletion. The enzyme activity may be determined in leukocytes, fibroblasts, liver, and/or transformed lymphoblastoid cell lines. Kidney, small intestine, and adrenal gland are also deficient in GK activity among affected individuals.
HOW IS GLYCEROL KINASE DEFICIENCY TREATED?
Treatments for Glycerol Kinase Deficiency are targeted to treat the symptoms because there are no permanent treatments for this disease. The main way to treat these symptoms is by using corticosteroids, glucose infusion, or mineralocorticoids. Corticosteroids are steroid hormones that are naturally produced in the adrenal glands. These hormones regulate stress responses, carbohydrate metabolism, blood electrolyte levels, as well as other uses. The mineralocorticoids, such as aldosterone control many electrolyte levels and allow the kidneys to retain sodium. Glucose infusion is coupled with insulin infusion to monitor blood glucose levels and keep them stable. Due to the multitude of varying symptoms of this disease, there is no specific treatment that will cure this disease altogether. The symptoms can be treated with many different treatments and combinations of medicines to try to find the correct combination to offset the specific symptoms. Everyone with Glycerol Kinase Deficiency has varying degrees of symptoms and thereby requires different medicines to be used in combination to treat the symptoms, however, this disease is not curable and the symptoms can only be managed, not treated fully.
DID YOU KNOW?
In many cases, it may lead to confusion of sexual identity among young boys.