A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story

Abstract

Objectives: Fructose-1,6-bisphosphatase deficiency (FBPasedeficiency, OMIM 229700) is an early-onset rare geneticdisorder caused by mutations in the FBP1 gene.Case presentation: Our patient was 17-years-old when shewas diagnosed with the disease. Initial sequencing analysis with Ion Torrent technology failed to detect the grossdeletion 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 ofsequencing data analysis for precise diagnosis of rarediseases and therapy planning.