Glycerol kinase deficiency (GKD) or hyperglycerolemia is a rare X-linked metabolic disorder caused by loss of glycerol kinase and characterized by accumulation of glycerol in blood and urine. There are three clinically defined forms - infantile, juvenile and adult. Infantile GKD can be severe with strong developmental delays and metabolic dysfunction and appears to result from contiguous deletions that take out glycerol kinase.
HOW IS GLYCEROL KINASE DEFICIENCY DIAGNOSED?
The electrolyte profile of the person is taken to confirm the condition.
HOW IS GLYCEROL KINASE DEFICIENCY TREATED?
Treatment is most critical for patients with adrenal hypoplasia and insufficiency, since all the deaths seem to have resulted from Addisonian crises. These patients require glucocorticoid and mineralocorticoid treatment. Patients with vomiting, acidemia, and stupor associated with GH deficiency or the glycerol intolerance syndrome may be placed on a low-fat diet, but most important is the avoidance of prolonged fasts.
DID YOU KNOW?
In many cases, it may lead to confusion of sexual identity among young boys.