Glycerol Kinase Deficiency is a rare form of X-linked recessive enzyme defect that can present at infant, juvenile and adult stage. The condition can be caused due to a deletion or mutation of a single gene or because of isolated enzyme deficiency. The condition is characterized by presence of glycerol in blood and urine. The excess glycerol can cause potentially dangerous symptoms such as cryptorchidism, strabismus and seizures. There can be other symptoms such as osteoporosis, hypoglycaemia, myopathy and 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?
Treatment for Glycerol Kinase Deficiency are focussed on curing and healing the symptoms as there is no immediate cure for this disease. Generally the use of corticosteroids, glucose infusion, or mineralocorticoids are suggested for balancing the hormones and regulating metabolism too. In some cases, glucose infusion is done with insulin infusion too.
DID YOU KNOW?
This is a rare disease as per the Office of Rare Diseases Research (ORDR) that affects less that 200,000 people in the United States.