Fructose is a simple sugar molecule that is found in fruits, root vegetables, flowers and honey. Fructose enzyme deficiency is a defect involving fructose metabolism; it is also called fructose 1-phosphate aldolase deficiency. When there is an insufficiency of aldolase B (fructose 1-phosphate aldolase deficiency), this is what happens:
- There is an insufficiency of the aldolase enzyme, consequently there is a decreased breakdown of fructose 1-phosphate by aldolase and this hampers one more enzyme called as fructokinase.
- As a result of this, there occurs a buildup of free fructose in blood, liver, and kidneys.
- Elevated levels of fructose lead to an increase in level of uric acid within the blood.
- The kidneys try to get rid of the surplus uric acid which tends to compromise the lactic acid removal.
- Consequently, the amount of lactic acid in blood increases above normal.
- Normal regulation of glucose also gets impaired given that aldolase B has a role to play in the manufacture of glucose from other nutrients. Hence, hypoglycemia is also present.
Symptoms Of Fructose Enzyme Deficiency
By and large, this disorder is asymptomatic, more so, if you only tend to consume tiny quantities of fructose. Contrasting from fructose malabsorption, this condition may show no GI symptoms like bloating and diarrhea, but there would be other clinical features.
The symptoms of fructose enzyme deficiency are:
- Irritability and sluggishness
- Nausea and vomiting
- Problems with feeding in babies
- Problems with weight gain
- Enlarged liver
Symptoms come on a short while after consuming huge quantities of food or drink which are loaded with fructose. Symptoms of hypoglycemia may be present too, due to impaired gluconeogenesis.
What Causes Fructose Enzyme Deficiency?
Fructose 1-phosphate aldolase deficiency is a genetic anomaly. It is passed on as autosomal recessive trait – which means that the defect must be passed on from both the parents. Initially, it was believed to be very rare disorder; however, it now appears to be fairly common afflicting about 1 in 20000 people.
The disorder may become apparent only when considerable quantities of fructose are consumed. This could be in early life given that baby milk formulation contains sucrose – a blend of fructose and glucose. Baby may show manifestations of hereditary fructose intolerance that gets misdiagnosed occasionally or it may not be noticeable at all. It may sometimes be mistaken for other medical conditions.
The condition may stay undiagnosed for a long time until the baby gets older and then can describe the symptoms, the symptom become evident when the child rejects foods having large quantities of fructose or sucrose.
Treatment of Fructose Enzyme Deficiency
There isn’t any specific treatment to manage fructose intolerance. The chief goal of management of the condition successfully is to steer clear of all foods that are high in fructose – often you will be able to identify the food items that make you ‘sick’.
Sucrose needs to be eliminated from your diet as well, in view of the fact that it is a combination of both fructose and glucose.