scholarly journals Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

2021 ◽  
Vol 10 (13) ◽  
pp. 2932
Author(s):  
Ainara Cano ◽  
Carlos Alcalde ◽  
Amaya Belanger-Quintana ◽  
Elvira Cañedo-Villarroya ◽  
Leticia Ceberio ◽  
...  
Keyword(s):  
Dietary Intake ◽  
Elevated Serum ◽  
Hereditary Fructose Intolerance ◽  
Glycosylation Pattern ◽  
Fructose Intake ◽  
Fructose Intolerance ◽  
Capillary Zone ◽  
Aldolase B ◽  
New Biomarkers ◽  
Restrictive Diet

Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, p = 0.024) and FSS (R = −0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.

scholarly journals Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Nutrients ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 2397 ◽  
Author(s):  
Di Dato ◽  
Spadarella ◽  
Puoti ◽  
Caprio ◽  
Pagliardini ◽  
...  
Keyword(s):  
Liver Injury ◽  
Genetic Disorder ◽  
Liver Steatosis ◽  
Daily Intake ◽  
Young Patients ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intake ◽  
Fructose Intolerance ◽  
Carbohydrate Deficient Transferrin ◽  
Aldolase B

Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients’ clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 ± 5.6 years and fructose intake 169 ± 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ± 55 IU/L vs. 143 ± 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.

scholarly journals Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene

2019 ◽  
Vol 7 ◽  
pp. 2050313X1882309
Author(s):  
Martha Catalina Morales-Alvarez ◽  
Maria Laura Ricardo-Silgado ◽  
Hernan Nicolas Lemus ◽  
Deyanira González-Devia ◽  
Carlos O Mendivil
Keyword(s):  
Untranslated Region ◽  
Stop Codon ◽  
Glucose Monitoring ◽  
Repeated Measurements ◽  
Hereditary Fructose Intolerance ◽  
Dietary Fructose ◽  
Fructose Intolerance ◽  
Exon 9 ◽  
Aldolase B ◽  
Hydrolysis Of

Hereditary fructose intolerance, caused by mutations in the ALDOB gene, is an unusual cause of hypoglycemia. ALDOB encodes the enzyme aldolase B, responsible for the hydrolysis of fructose 1-phosphate in the liver. Here, we report the case of a 33-year-old female patient who consulted due to repetitive episodes of weakness, dizziness and headache after food ingestion. An ambulatory 72-h continuous glucose monitoring revealed multiple short hypoglycemic episodes over the day. After biochemical exclusion of other endocrine causes of hypoglycemia, hereditary fructose intolerance seemed a plausible diagnosis. Repeated measurements of urinary fructose revealed pathologic fructosuria, but genetic testing for the three most common mutations in ALDOB resulted negative. We decided to perform complete Sanger sequencing of the ALDOB gene and encountered a variant consisting of a T>A substitution in position 1963 of the ALDOB transcript (c.1693T>A). This position is located within the 3′ untranslated region of exon 9, 515 nucleotides downstream the stop codon. After complete withdrawal of dietary fructose and sucrose, the patient presented no new hypoglycemic episodes.

Mutation of aldolase B genes in hereditary fructose intolerance

The Lancet ◽  
1990 ◽  
Vol 335 (8693) ◽  
pp. 856 ◽  
Author(s):  
M. De Souza ◽  
R. Lindeman ◽  
F. Volpato ◽  
R.J. Trent ◽  
R. Kamath
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance ◽  
Aldolase B

scholarly journals HEREDITARY FRUCTOSE INTOLERANCE IN A PEDIATRIC CONTEXT

2018 ◽  
Vol 3 (5) ◽  
pp. 66-74
Author(s):  
Lucas Leimig Telles Parente ◽  
Rodrigo Emmanuel Leimig Telles Parente ◽  
Maria Valéria Leimig Telles ◽  
Maria das Graças Nascimento Silva
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Electronic Library ◽  
Fructose Intolerance ◽  
The Subject ◽  
Aldolase B ◽  
Nutritional Monitoring ◽  
Carbohydrate Intolerance ◽  
Publication Period ◽  
Made In

Carbohydrate intolerance is relatively common in childhood, but its diagnosis and management are still quite precarious. Hereditary fructose intolerance (HFI) is an autosomal recessive disease that results in deficiency of the enzyme aldolase B, which contributes to the onset of gastrointestinal and metabolic symptoms, triggered by the ingestion of foods high in fructose, sucrose or sorbitol. Methodology: For the accomplishment of such a study a search of the literature was done from August to September of the year 2018 with publication period of a maximum of 10 years. The theoretical reference was elaborated through the collection of relevant scientific articles on the subject, made in the electronic databases: Scientific Electronic Library Online (SciELO), Pubmed, EBSCOhost and CAPES, from descriptors generated by DeCS: "Fructose Intolerance"; "Child" and its correspondents in English. Thus, 81 articles were obtained and, from the title of the literature and its abstracts, were used. 19 Ademias, articles that were related to the topics covered in this study or whose sample was not composed by humans were also discarded. The diagnosis of HFI is based on the suggestive clinical picture initiated after the ingestion of the fructose, sucrose and sorbitol already mentioned, associated with the use of invasive and noninvasive examinations, but the confirmation is based on the response to the improvement of the symptoms after the restriction of the ingestion of such food, which constitutes the best therapy. Conclusion: Based on the consequences of inadequate management of HFI, it is of fundamental importance that the affected children have an early diagnosis, associated with an adequate nutritional monitoring, which enables an improvement in the quality of life of these individuals, besides preventing important repercussions such as renal and hepatic impairment. Keywords: Hereditary Intolerance to Fructose, Child and Diet

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance

FEBS Letters ◽  
2002 ◽  
Vol 531 (2) ◽  
pp. 152-156 ◽  
Author(s):  
Gabriella Esposito ◽  
Luigi Vitagliano ◽  
Rita Santamaria ◽  
Antonietta Viola ◽  
Adriana Zagari ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance ◽  
Aldolase B
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