Gluconeogenesis disorder

A gluconeogenesis disorder is a rare inherited metabolic condition where the body cannot properly make glucose (blood sugar) from non-sugar sources like proteins and fats. Normally, when you have not eaten for a while, your body uses a process called gluconeogenesis to keep your blood sugar at a safe level. In people with this disorder, that process is broken, which means blood sugar can drop dangerously low — especially during fasting, illness, or times of physical stress. The most well-known condition in this group is Fructose-1,6-bisphosphatase deficiency (also called FBPase deficiency), which is the primary disorder listed under Orphanet code 79177. This condition mainly affects the liver, which is the main organ responsible for making new glucose. When blood sugar falls too low (hypoglycemia), the brain and other organs are starved of energy. This can cause seizures, extreme tiredness, breathing problems, and in severe cases, life-threatening metabolic crises. Episodes are often triggered by going too long without eating, having a fever, or being sick. The good news is that with the right diet and careful management, many people with gluconeogenesis disorders can live relatively normal lives. Treatment focuses on preventing low blood sugar by eating frequently, avoiding long fasting periods, and sometimes using special medical foods or glucose supplements during illness. Early diagnosis is very important to prevent serious complications, especially in newborns and young children.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific mutation does my child have in the FBP1 gene, and what does that mean for their health?,How long can my child safely go without eating at different ages, and what should I do overnight?,What is our emergency sick day plan if my child is vomiting and cannot eat?,Are there any foods or ingredients we must completely avoid, such as fructose or sorbitol?,Should other family members be tested to see if they are carriers?,What signs of a metabolic crisis should send us straight to the emergency room?,Will my child's ability to tolerate fasting improve as they get older?

Common questions about Gluconeogenesis disorder

Related conditions

Other rare diseases commonly researched alongside Gluconeogenesis disorder.

• Fructose-1,6-bisphosphatase deficiency→
• Hereditary fructose intolerance→
• Phosphoenolpyruvate carboxykinase deficiency→
• Pyruvate carboxylase deficiency→