Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, inborn error of metabolism, that causes hypoglycemia and lactic acidosis in response to inadequate glucose intake and/or high intakes of fructose, sucrose, or sorbitol. Pregnancy in women with FBPase deficiency puts them at high risk for metabolic decompensation due to increased glucose demands from the growing fetus. Here we report a 31-year-old primipara who was treated starting at 14 weeks gestation with a diet high in complex carbohydrates and low in fructose, sucrose, and sorbitol and close monitoring of glucose levels throughout her pregnancy. She delivered a healthy 2860 g baby at 37 weeks via vaginal delivery with no complications or hypoglycemia. At 5 months postpartum and 5 months of life, the patient and baby are doing well, although the patient experienced an episode of hypoglycemia and lactic acidosis at 4 months postpartum due to the increased metabolic demands of breastfeeding. This report adds to the limited case reports that discuss outcomes and proposed interventions during pregnancy in individuals with FBPase deficiency.
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| http://dx.doi.org/10.1002/jmd2.12453 | DOI Listing |
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Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, inborn error of metabolism, that causes hypoglycemia and lactic acidosis in response to inadequate glucose intake and/or high intakes of fructose, sucrose, or sorbitol. Pregnancy in women with FBPase deficiency puts them at high risk for metabolic decompensation due to increased glucose demands from the growing fetus. Here we report a 31-year-old primipara who was treated starting at 14 weeks gestation with a diet high in complex carbohydrates and low in fructose, sucrose, and sorbitol and close monitoring of glucose levels throughout her pregnancy.
View Article and Find Full Text PDFIntrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.
Mol Genet Metab Rep
December 2024
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Background: FBPase deficiency as an autosomal recessive disorder is due pathogenic variants in the FBP1 gene. It usually presents with hyperlactic acidemia and hypoglycaemia starting from early childhood. Here, genotypes and phenotypes of all reported patients and their distributions are presented.
View Article and Find Full Text PDFNovel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report.
Mol Genet Genomic Med
January 2024
Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Background: Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessively inherited metabolic disorder characterized by impaired gluconeogenesis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear.
Methods: We report a pediatric patient with typical FBPase deficiency who presented with hypoglycemia, hyperlactatemia, metabolic acidosis, and hyperuricemia.
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Commun Biol
July 2023
Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan.
Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessive disorder characterized by hypoglycemic lactic acidosis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear. Here we identify compound heterozygous missense mutations of FBP1, c.
View Article and Find Full Text PDFA novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.
Arch Biochem Biophys
July 2023
Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China. Electronic address:
Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis caused by mutations in the fructose-1,6-bisphosphatase 1 (FBP1) gene. The molecular mechanisms underlying FBPase deficiency caused by FBP1 mutations require investigation. Herein, we report the case of a Chinese boy with FBPase deficiency who presented with hypoglycemia, ketonuria, metabolic acidosis, and repeated episodes of generalized seizures that progressed to epileptic encephalopathy.
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