gb GENETIC FRUCTO

• kit requires manual preparation of reagents and samples, which are then analysed with the use of real-time PCR cycler instrument
• kit is intended for testing in Caucasian population
• kit is intended for laboratory professional use by trained healthcare professionals
• detection of A149P, A174D and N334K polymorphisms and the deletion del4E4 serves as an aid to diagnosis of patients with suspected disease hereditary fructose intolerance (HFI) due to a deficiency of the ALDOB enzyme

Clinical implications

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency of the enzyme aldolase B, which is essential for the metabolism of fructose. One person in 10,000 to 100,000 suffers from HFI. The most common mutations of the gene for aldolase B are A149P, A174D, N334K and deletion of del4E4. Hereditary fructose intolerance is characterized by clinical symptoms such as vomiting, nausea, diarrhea, growth restriction and metabolic disorders (hypoglykemia, hyperuricemia, hypomagnesemia, or lactic acidosis). HFI may also lead to liver and kidney failure. HFI first appears in infants who are not breastfed, but eat a diet containing sucrose and fructose.