Hereditary Fructose Intolerance is a rare genetic disorder and inherited as an autosomal recessive trait. Mutations in the gene for the enzyme fructose-1-phosphat aldolase (aldolase B) are causing an inactive form of the enzyme. Patients with inactive aldolase B enzyme show strong accumulation of fructose-1-phosphate and fructose-1,6-bisphosphat in liver, kidney and intestine resulting in intoxication.
Until now there are described about 35 mutations which are inactivating. About 95% of aldolase B deficiency are caused by the four mutations A149P, A174D, N334K and Δ4E4.
AID Fructose-Intolerance Kit enables detection of the four most frequent mutations in aldolase B gene.
- Sensitive detection of the four most frequent mutations in HFI gene aldolase B
- Differentiation between homozygous and heterozygous genotype
- PCR with subsequent lineprobe assay
- Specimen: human DNA isolated from buccal swab, Citrate- or EDTA-blood or biopsy
- Control bands on every strip show correct DNA isolation, amplification and hybridization
- Results within 4 hours
- Suited for automated systems
- Evaluation and documentation with AID Scanning system