Isolated glycerol kinase deficiency (iGKD) is a rare autosomal recessive disorder caused by a deficiency of the enzyme glycerol kinase. This enzyme is responsible for the conversion of glycerol to glycerol-3-phosphate, which is an important intermediate in the metabolism of lipids. People with iGKD have a buildup of glycerol in their blood, which can lead to a variety of symptoms, including seizures, developmental delay, and failure to thrive. Treatment typically involves dietary modifications and supplementation with glycerol-3-phosphate.

The symptoms of Isolated glycerol kinase deficiency include:

-Low blood sugar (hypoglycemia)
-Poor feeding
-Failure to thrive
-Lethargy
-Seizures
-Developmental delay
-Growth retardation
-Hepatomegaly (enlarged liver)
-Hepatic steatosis (fatty liver)
-Hypertriglyceridemia (high triglyceride levels)
-Hyperuricemia (high uric acid levels)
-Hyperammonemia (high ammonia levels)
-Hyperlipidemia (high lipid levels)
-Hypercholesterolemia (high cholesterol levels)
-Hypokalemia (low potassium levels)
-Hypophosphatemia (low phosphate levels)
-Hypocalcemia (

Isolated glycerol kinase deficiency is caused by mutations in the GK gene, which encodes the enzyme glycerol kinase. Mutations in this gene can lead to a decrease in the activity of the enzyme, resulting in an inability to metabolize glycerol properly. This can lead to a buildup of glycerol in the body, which can cause a variety of symptoms.

The treatments for Isolated glycerol kinase deficiency include dietary management, enzyme replacement therapy, and gene therapy. Dietary management involves reducing the amount of dietary glycerol and increasing the amount of dietary carbohydrates. Enzyme replacement therapy involves intravenous infusions of recombinant glycerol kinase. Gene therapy involves introducing a functional copy of the gene that is responsible for glycerol kinase production into the patient's cells.

1. Genetic inheritance: Isolated glycerol kinase deficiency is an inherited disorder caused by mutations in the GK gene.

2. Ethnicity: Isolated glycerol kinase deficiency is more common in individuals of Ashkenazi Jewish descent.

3. Age: Isolated glycerol kinase deficiency can affect individuals of any age, but is more common in infants and young children.

4. Gender: Isolated glycerol kinase deficiency affects males and females equally.

At this time, there is no cure for isolated glycerol kinase deficiency. However, there are medications that can help manage the symptoms of the condition. These medications include anticonvulsants, anti-inflammatory drugs, and enzyme replacement therapy. Additionally, dietary modifications, such as avoiding foods high in glycerol, may help reduce symptoms.