Glycerol Kinase Deficiency is also referred to as GKD and it is an X-linked recessive enzyme defect. The problem is heterozygous and there are 3 known distinctive forms of this problem. Here the genes are placed in a way that they lead to Duchenne muscular dystrophy and adrenal hypoplasia congenita along with metabolic acidosis and hypoglycemia.
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 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?
In many cases, it may lead to confusion of sexual identity among young boys.