Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children
Loading...
Date
Journal Title
Journal ISSN
Volume Title
Publisher
Saudi Arabian Armed Forces Hospital
Abstract
Objectives: To draw attention towards fructose-1,6bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies. Methods: This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Results: Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene. Conclusion: Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies. © 2020 Saudi Arabian Armed Forces Hospital. All rights reserved.
Description
Keywords
6-bisphosphatase, Fbp1 gene, Fbpase, Fructose, Fructose-1, Hypoglycemia, Acidosis, lactic, Child, Child, preschool, Cross-sectional studies, Female, Fructose-1,6-diphosphatase deficiency, Fructose-bisphosphatase, Genetic variation, Humans, Infant, Infant, newborn, Male, Pathology, molecular, Saudi arabia, Alanine aminotransferase, Aspartate aminotransferase, Aspartic acid, Bilirubin, Cholesterol, Creatine kinase, Fructose bisphosphatase, Gamma glutamyltransferase, Glucose, Glycine, Hemoglobin a1c, Lactic acid, Uric acid, Fbp1 protein, human, Acidosis, Article, Consanguineous marriage, Cross-sectional study, Disorders of mitochondrial functions, Electrocardiography, Gene, Gene mutation, Gene sequence, Genetic analysis, Genotype, Glucose blood level, Hereditary fructose intolerance, Human, Lactic acidosis, Mass spectrometry, Molecular diagnosis, Observational study, Phenotype, Respiratory distress, Sanger sequencing, Tandem mass spectrometry, Case report, Complication, Genetics, Molecular pathology, Newborn, Preschool child