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Doctors for Glycerol Kinase Deficiency in Coimbatore
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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?
Diagnosis of the same is done on the basis of symptoms and a genetic test would be done to see these genetical issues.
HOW IS GLYCEROL KINASE DEFICIENCY TREATED?
Treatment of Glycerol Kinase Deficiency is focused at treating the symptoms. There is no permanent cure for the disease. Corticosteroids, glucose infusion, or mineralocorticoids are mainly used in treatment. A combination of treatments and medications are used for treating the varying symptoms.
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.