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GLYCEROL KINASE DEFICIENCY
Glycerol Kinase Deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research (ORDR) branch classify CKD as a rare disease, known to affect less than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD. Symptoms visible at or shortly after birth include:
Some other symptoms that become more noticeable with time are:
• metabolic acidosis
• adrenal cortex insufficiency
• learning disabilities
HOW IS GLYCEROL KINASE DEFICIENCY DIAGNOSED?
A general physician/ pediatrician diagnoses Glycerol Kinase Deficiency by performing genetic testing.
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?
Patients with the glycerol intolerance syndrome have episodes of sweating, irritability, confusion, marked lethargy, and coma. Hypoglycemia and seizures are variably observed. Episodes can be precipitated by glycerol ingestion or infusion. The patients may outgrow these episodes. Each of the three individuals investigated has a history of prematurity.