Fructose-1,6-bisphosphatase deficiency is a rare inherited disorder that affects the body's ability to break down fructose, a type of sugar. It is caused by a deficiency of the enzyme fructose-1,6-bisphosphatase, which is responsible for breaking down fructose into other sugars that can be used for energy. Symptoms of this disorder can include low blood sugar, poor growth, and liver and kidney problems. Treatment typically involves dietary changes and medications to help manage symptoms.

The symptoms of Fructose-1,6-bisphosphatase deficiency can vary depending on the severity of the condition, but may include:

-Hypoglycemia (low blood sugar)
-Lethargy
-Poor feeding
-Failure to thrive
-Developmental delay
-Seizures
-Hepatomegaly (enlarged liver)
-Hyperuricemia (high levels of uric acid in the blood)
-Hyperammonemia (high levels of ammonia in the blood)
-Hyperlipidemia (high levels of lipids in the blood)
-Hypertriglyceridemia (high levels of triglycerides in the blood)
-Hypocalcemia (low levels of calcium in the blood)
-Hypophosphatemia (low levels of phosphate

Fructose-1,6-bisphosphatase deficiency is caused by mutations in the FBP1 gene. This gene provides instructions for making an enzyme called fructose-1,6-bisphosphatase, which is involved in the breakdown of sugar molecules. Mutations in the FBP1 gene reduce or eliminate the activity of the enzyme, leading to a buildup of fructose-1,6-bisphosphate in the body. This buildup interferes with the normal breakdown of sugar molecules, resulting in the signs and symptoms of fructose-1,6-bisphosphatase deficiency.

1. Dietary management: A low-fructose diet is recommended to reduce the amount of fructose and sucrose in the diet.

2. Medication: Medications such as acarbose and miglitol can be used to reduce the absorption of fructose and sucrose in the intestine.

3. Enzyme replacement therapy: Enzyme replacement therapy is a promising treatment for Fructose-1,6-bisphosphatase deficiency. This involves the administration of a recombinant form of the enzyme to replace the missing enzyme in the body.

4. Liver transplantation: In some cases, a liver transplant may be necessary to treat Fructose-1,6-bisphosphatase deficiency. This is usually reserved for cases where other treatments have failed.

1. Genetic inheritance: Fructose-1,6-bisphosphatase deficiency is an inherited disorder caused by mutations in the FBP1 gene.

2. Ethnicity: Fructose-1,6-bisphosphatase deficiency is more common in people of Ashkenazi Jewish descent.

3. Age: Fructose-1,6-bisphosphatase deficiency is more common in infants and young children.

There is currently no cure for Fructose-1,6-bisphosphatase deficiency. However, there are medications that can help manage the symptoms. These include medications to reduce the amount of fructose in the diet, medications to reduce the amount of glucose in the blood, and medications to reduce the amount of uric acid in the blood. Additionally, a low-protein diet may be recommended to reduce the amount of fructose in the diet.