Disorder of glycerol metabolism

Disorder of glycerol metabolism (Orphanet code 79179) is a rare inherited condition where the body cannot properly process glycerol, a simple sugar-like molecule that is a building block of fats. The most well-known form is called glycerol kinase deficiency (GKD), which happens when the enzyme glycerol kinase does not work correctly. This enzyme is needed to break down glycerol so the body can use it for energy. Without it, glycerol and certain related substances build up to harmful levels in the blood and urine. The condition can affect multiple body systems. In its most severe form, it can cause serious problems with the adrenal glands (which make important hormones), the muscles, and brain development. Some people have a milder form that mainly shows up as high glycerol levels in lab tests without obvious symptoms. Symptoms can include low blood sugar, extreme tiredness, vomiting, and in severe cases, intellectual disability or developmental delays. Treatment focuses on managing symptoms, preventing metabolic crises through diet and careful monitoring, and replacing adrenal hormones if needed. There is currently no cure, but with early diagnosis and proper management, many people can lead relatively stable lives. This condition is also sometimes called glycerol kinase deficiency or GKD.

Bring these to your next appointment

• Q1.Which form of glycerol metabolism disorder does my child or I have, and how severe is it likely to be?,Does my child need adrenal hormone replacement, and how do we manage sick days?,What dietary changes are needed, and should we work with a metabolic dietitian?,What are the signs of an adrenal crisis, and what should I do in an emergency?,Should other family members be tested, especially brothers or maternal relatives?,Are there any clinical trials or new treatments we should know about?,What developmental or educational support services should we pursue?

Common questions about Disorder of glycerol metabolism