Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
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Mehmet Gunduz
Abstract
Objectives
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study aims to represent the clinical features and molecular genetic analysis data of the patients diagnosed with HFI in our study population.
Methods
The medical records of the 26 patients with HFI were evaluated retrospectively. Age, gender, clinical findings, metabolic crises, and the results of molecular analyses were recorded.
Results
The patients with HFI had a good prognosis and the aversion to sugar-containing foods was the main complaint. Seven different variants were identified in the Aldolase B (ALDOB) gene in HFI patients. The most frequent mutations were p.Ala150Pro, p.Ala175Asp had a prevalence of 61 and 30%, respectively, in agreement with the literature and other known variants were found with minor frequencies c.360-363del4(3.8%), p.Asn335Lys(3.8%), and three novel mutations c.113-1_15del4 (3.8%), p.Ala338Val(7.6%), and p.Asp156His(3.8%) were identified at a heterozygous, homozygous, or compound heterozygous level.
Conclusions
This study results revealed three novel mutations in patients with HFI. On the basis of age of presentation, clinical symptoms, and metabolic crisis, there was no clear-cut genotype-phenotype correlation. This article also demonstrates the importance of screening suspected infants in cases of acute liver failure for prompt diagnosis and treatment of HFI.
Research funding: None.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
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- Evaluation of children with type 1 diabetes mellitus in terms of overweight/obesity in tertiary care hospital
- Association between anthropometric measures and insulin resistance in Brazilian adolescents: data from the national study of cardiovascular risk factors in adolescents – ERICA
- Evaluation of metabolic parameters and aortic elasticity in normotensive children with premature adrenarche
- Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
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- Metabolic syndrome and cardiorespiratory fitness in children and adolescents: the role of obesity as a mediator
- Short Communication
- Transient neonatal hyperinsulinism: early predictors of duration
- Case Reports
- An extremely high blood glucose level in a child with hyperglycemic hyperosmolar state and type 1 diabetes
- Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy
- Short report: craniosynostosis, a late complication of nutritional rickets
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Articles in the same Issue
- Frontmatter
- Original Articles
- Clinical characteristics and treatment patterns with histrelin acetate subcutaneous implants vs. leuprolide injections in children with precocious puberty: a real-world study using a US claims database
- High serum neurotensin level in obese adolescents is not associated with metabolic parameters, hyperphagia or food preference
- Increased lipocalin 2 levels in adolescents with type 2 diabetes mellitus
- Clinical, biochemical, and radiological follow-up results of children and adolescents with Hashimoto’s thyroiditis: a single-center experience
- Evaluation of children with type 1 diabetes mellitus in terms of overweight/obesity in tertiary care hospital
- Association between anthropometric measures and insulin resistance in Brazilian adolescents: data from the national study of cardiovascular risk factors in adolescents – ERICA
- Evaluation of metabolic parameters and aortic elasticity in normotensive children with premature adrenarche
- Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
- Quantitation and evaluation of perinatal medium-chain and long-chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns
- Metabolic syndrome and cardiorespiratory fitness in children and adolescents: the role of obesity as a mediator
- Short Communication
- Transient neonatal hyperinsulinism: early predictors of duration
- Case Reports
- An extremely high blood glucose level in a child with hyperglycemic hyperosmolar state and type 1 diabetes
- Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy
- Short report: craniosynostosis, a late complication of nutritional rickets
- Childhood obesity as a safeguarding issue: positive experiences with the “new home” environment as a treatment for weight management
