Genetic examination of fructose intolerance.

Hereditary fructose intolerance is an inherited disease that manifests itself as an inability to metabolize fructose and fruit sugars.

Analysis methods Availability Number of genes Test code Retail Price
PCR 3 – 4 weeks GHC 027 £ TBA

Detailed information

Hereditary fructose intolerance is an inherited disease that manifests itself as an inability to metabolize fructose and fruit sugars. Fructose is mainly contained in fruit - fruit syrups, compotes, marmalades - but also in honey, sauerkraut, cruciferous or onion vegetables.

The affected person suffers from severe abdominal pain, vomiting and hypoglycaemia (decrease in blood glucose) after receiving food containing fructose, sucrose or sorbitol. In these people, long-term fructose intake can lead to severe liver and kidney damage.

The examination is appropriate if:

  • You suffer from some of the clinical manifestations of fructose intolerance
  • You have a positive fructose tolerance test
  • Your liver damage is unclear
  • If children develop a problem with food intake containing fructose

Who is the test suitable for?

The inherited fructose metabolic disorder is due to the malfunction of the enzyme aldolase B. Individuals with this congenital disorder have no symptoms until they start taking fructose. Diseases can be different, characterized by: abdominal pain, vomiting, convulsions, hypoglycemia after ingestion of fructose, resistance to sweets, haemorrhage - bleeding, liver enlargement, kidney failure.

The number of people with genetic predisposition to congenital fructose intolerance is relatively high, approximately 1: 70, but the number actually affected by this disease is 1: 20,000. In addition to DNA analysis of the ALDOB gene, there is no other method for identifying an asymptomatic person and confirming this hereditary disorder.

What can this test reveal?

Fructose intolerance can lead to liver and kidney failure. Inherited fructose intolerance occurs already in infancy in children who are not fed with breast milk but with food containing sucrose and fructose. If such a child accepts a large amount of fructose, it may cause lethargy and seizures. Early diagnosis is important in terms of possible organ damage and the right treatment.

How does the test work?

Genetic examination is performed from your DNA, which can be obtained by swabbing from the oral cavity (buccal wiping of the inside of your mouth cheek - DNA isolation from oral mucosal cells). You can take the sample yourself in the comfort of your home and send it to our lab, or have your collection taken by your GP.

How is the test done?

You can order the test from attending your Doctor/GP, private clinic or online at ghcgenetics. Once you have signed the informed consent form, either a swab of your mouth will be taken or a blood sample will be collected. Once the genetic analysis is finished, you or your Doctor/GP will receive a report with the results and based on these he/she will recommend suitable preventive measures.