The role of bioinformatic analysis in the early diagnosis of hereditary fructose intolerance

Introduction: The importance of early screening for congenital metabolic diseases is well illustrated by hereditary fructose intolerance (HFI), in which the enzyme aldolase B is not synthesized normally in the organism due to a mutation in the ALDOB (9q31.1) gene, and so the breakdown of fructose- 1-phosphate is inadequate. Early diagnosis is essential in the selection of appropriate treatment, as soon as possible. Otherwise, constant intake of fructose into the body can lead to worsening of symptoms and liver damage, which can finally lead to death. Objective: The aim of our research is to facilitate the screening of hereditary fructose intolerance, thus making possible the selection of the correct treatment as soon as possible. For this purpose, we used bioinformatics and the help of an application we made. Methods: Bioinformatic analysis is designed to facilitate the comparison of the patient’s gene obtained by chromosomal sequencing with the nucleotide sequence of the healthy gene. The program we created can recognize and compare the sequence of the patient’s ALDOB gene with the normal one. In a further step, the program can create the mRNA of the introduced gene, and from this, the structure of the protein encoded by the tested gene. Results: The program written in C# can recognize the ALDOB gene introduced in FASTA format, and in case of any differences, it determines the exact positions these can be found, and the type of nucleotides that differ from the normal ones in the introduced sequence. Conclusion: Bioinformatic processing provides a reliable and quick solution for early screening of HFI, since the necessary genetic sampling can be done even on the first week after birth, thus contributing to the establishment of correct treatment. This could also reduce the frequency of complications of patients with HFI and the number of deaths recorded mainly in infants.