Hereditary fructose intolerance
Hereditary fructose intolerance (HFI) is a disease of the metabolism of fructose, resulting from a deficiency in the activity of the enzyme aldolase B (fructose-1 phosphate aldolase). This enzymatic defect prevents the transformation of fructose into its various metabolites, which leads to an inhibition of glucose synthesis and a decrease in adenosine triphosphate (ATP). As a consequence, there are distinct metabolic alterations such as hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia and hyperalaninemia, and clinical symptoms such as nausea, vomiting and abdominal pain. HFI is a genetic disease of autosomal recessive inheritance, resulting from mutations in the gene encoding the enzyme aldolase B (ALDOB).
The Fructose Test consists of the evaluation of these 3 recurrent mutations in the ALDOB gene (A149P, A174D, N334K) responsible for 90% of HFI cases in European patients. Alternatively to the respiratory test, the analysis is performed from a blood sample, avoiding direct exposure of the patient to substances.
• Children with clinical symptoms and nutritional and/or family characteristics suggestive of IHF.
• Relatives close to IHF patients.
• Clinical suspicion of fructose malabsorption.
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
• It uses the Sanger sequencing method that guarantees 100% coverage of all bases reads of the DNA.
• Any pathogenic mutation or mutation of uncertain significance is confirmed by a new DNA extraction.
• Alternatively to the respiratory test, the analysis is performed from a blood sample, avoiding direct exposure of the patient to substances.
DOCUMENTATION – Available on Extranet for clients:
• Informed Consent.
• Clinical Questionnaire.
• Fasting is not necessary for the test.