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The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.
J Diabetes Metab Disord
June 2025
Division of Pediatrics, Santa Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Largo Medaglie d'oro, 9, 38122 Trento, Italy.
Background: Untreated patients affected by hereditary fructose intolerance (HFI) present an abnormal transferrin (Tf) glycosylation pattern suggestive of N-hypoglycosylation. Analysis of defects in N-glycosylation is possible by analysis of serum sialotransferrin (sialoTf) pattern. The sialoTf profile is a valuable tool to facilitate the diagnosis of HFI.
View Article and Find Full Text PDFAldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.
J Inherit Metab Dis
January 2025
Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center+, Maastricht, The Netherlands.
Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N-linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e.
View Article and Find Full Text PDFContinuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications.
Rev Endocr Metab Disord
October 2024
Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, Padova, 35128, Italy.
Managing Inherited Metabolic Disorders (IMDs) at risk for hypoglycemia, such as Glycogen Storage Diseases (GSDs), Hereditary Fructose Metabolism Disorders (HFMDs) and Congenital Hyperinsulinism (CH), poses challenges in dietary treatments and blood glucose monitoring. The effectiveness of Continuous Glucose Monitoring (CGM) remains a subject of ongoing debate, with IMD guidelines maintaining caution. Therefore, a systematic evaluation is needed to understand the potential benefits of CGM during dietary interventions.
View Article and Find Full Text PDFFood-Intolerance Genetic Testing: A Useful Tool for the Dietary Management of Chronic Gastrointestinal Disorders.
Nutrients
August 2024
Joint Research Unit on Endocrinology, Nutrition and Clinical Dietetics, Health Research Institute La Fe, 46026 Valencia, Spain.
The rise in food intolerances and celiac disease, along with advanced diagnostic techniques, has prompted health professionals to seek effective and economical testing methods. This study evaluates combining genetic tests with routine carbohydrate-absorption breath tests to classify patients with chronic gastrointestinal disorders into therapeutic groups, enhancing dietary management and improving gut health and quality of life. Forty-nine patients with suspected carbohydrate intolerance underwent genetic testing for lactase non-persistence, hereditary fructose intolerance, and celiac disease risk.
View Article and Find Full Text PDFFructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.
Front Genet
July 2024
Children's Hospital and Institutes of Biomedical Sciences, Fudan University, National Children's Medical Center, Shanghai, China.
Article Synopsis
- The study estimates the prevalence of fructose-1,6-bisphosphatase deficiency (FBP1D) in China at about 1 in 1,310,034 individuals, revealing significant genetic variations in the population.
- Through analysis of 97 pathogenic variants, researchers found specific genotype-phenotype associations, linking certain genetic mutations to symptoms like increased urinary glycerol and hepatic steatosis.
- The findings highlight important differences between FBP1D and hereditary fructose intolerance (HFI), enhancing the understanding of fructose metabolism disorders.
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