Tuncel, GultenErgören, Mahmut Çerkez2024-07-022024-07-022020-10-010250-4685https://doi.org/10.1515/tjb-2019-0473https://hdl.handle.net/11452/42733Objectives: Fructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene.Case presentation: Our patient was 17-years-old when she was diagnosed with the disease. Initial sequencing analysis with Ion Torrent technology failed to detect the gross deletion that covered complete exon 2 (c.-24-26_170 + 5192del) of FBP1 gene and caused the delay in diagnosis. Deletion was then detected when sequencing was performed in an Illumina MiSeq platform.Conclusions: This case emphasizes the importance of sequencing data analysis for precise diagnosis of rare diseases and therapy planning.eninfo:eu-repo/semantics/closedAccessFbpase deficiencyFructose-1,6-biphospataseRare diseaseScience & technologyLife sciences & biomedicineBiochemistry & molecular biologyBiochemistry & molecular biologyArticle00058256800001861361645510.1515/tjb-2019-0473