ArticleJournal of inherited metabolic disease2015
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 59 citations in OpenAlex.
- Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency.Metabolites · 2026Article
- Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.Italian journal of pediatrics · 2025Observational
- Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.Orphanet journal of rare diseases · 2025Article
- The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.Case reports in medicine · 2025Article
- Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.Molecular genetics and metabolism reports · 2024Article
- Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency.JIMD reports · 2024Article
- Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.Frontiers in genetics · 2024Article
- Emerging roles of cytosolic phosphoenolpyruvate kinase 1 (PCK1) in cancer.Biochemistry and biophysics reports · 2023Review
- Hypoglycemia in Children: Major Endocrine-Metabolic Causes and Novel Therapeutic Perspectives.Nutrients · 2023Review
- Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.Communications biology · 2023Article
- The mechanistic target of rapamycin complex 1 pathway involved in hepatic gluconeogenesis through peroxisome-proliferator-activated receptor γ coactivator-1Animal nutrition (Zhongguo xu mu shou yi xue hui) · 2022Article
- A novel variant of fructose-1,6-bisphosphatase gene identified in an adult with newly diagnosed hepatitis C.JIMD reports · 2022Article
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- Novel Mutation with Fructose-1,6-Bisphosphatase Deficiency.Indian journal of pediatrics · 2021Article
- Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.Metabolic brain disease · 2019Article
- Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused byPediatric investigation · 2019Article
- Fructose 1,6-Bioscience reports · 2019Article
- A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency.Chinese medical journal · 2017Article
- Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.International journal of molecular sciences · 2017Article
- A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.Orphanet journal of rare diseases · 2016Article
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Authors and funding
8 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Fructose-1,6-bisphosphatase (FBPase) deficiency is a very rare autosomal recessive disorder caused by a mutation of the fructose-1,6-bisphosphatase gene(FBP1). Disease is mainly revealed by hypoglycemia and lactic acidosis, both symptoms being characteristic for an enzymatic block in the last steps of the gluconeogenesis. Twelve patients with FBPase deficiency were diagnosed in France in the 2001-2013 period, using a diagnostic system based on a single blood sample which allows simultaneous enzyme activity measurement on mononuclear white blood cells and molecular analysis. Sequencing of exons and intron-exon junctions of FBP1 gene was completed in unsolved cases by a gene dosage assay developed for each exon. For most patients, first metabolic decompensation occurred before two years of age with a similar sequence: the triggering factors were fever, fasting, or decrease of food intake. However, diagnosis was made late at a mean age of 3 years, as mitochondrial defects or glycogen storage diseases were firstly suspected. Enzyme activity in leukocytes was dramatically decreased (<10%). Twelve different mutations were identified in 22 alleles among them seven were novels: one missense mutation c.472C > T, one point deletion c.48del, one point duplication c.865dupA, one deletion-insertion, and two splice mutations (c.427-1del and c.825 + 1G > A). We described the first intragenic deletion in FBP1 (g.97,364,754_97,382,011del) in homozygous state. Our report also confirms that this very rare disease is misdiagnosed, as other energetic defects are firstly suspected.
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