scholarly journals Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

2014 ◽  
pp. 85-93 ◽  
Author(s):  
Sunita Bijarnia-Mahay ◽  
Sireesha Movva ◽  
Neerja Gupta ◽  
Deepak Sharma ◽  
Ratna D. Puri ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Founder Mutation ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

Molecular Diagnosis of Hereditary Fructose Intolerance

1992 ◽  
Vol 152 (4) ◽  
pp. 881
Author(s):  
Andrew J. Larner
Keyword(s):  
Molecular Diagnosis ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

Molecular diagnosis of hereditary fructose intolerance

1992 ◽  
Vol 152 (4) ◽  
pp. 881b-881
Author(s):  
A. J. Larner
Keyword(s):  
Molecular Diagnosis ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

Subcellular pathology of hereditary fructose intolerance

1968 ◽  
Vol 44 (6) ◽  
pp. 910-921 ◽  
Author(s):  
M.J. Phillips ◽  
J.A. Little ◽  
T.W. Ptak
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

scholarly journals HBAlab, A POSSIBLE MEANS OF METABOLIC CONTROL IN HEREDITARY FRUCTOSE INTOLERANCE (HFI) AND GALACTOSEMIA (G)

1985 ◽  
Vol 19 (10) ◽  
pp. 1082-1082
Author(s):  
H Böhles ◽  
J Schädle ◽  
W Endres ◽  
L S Shin ◽  
F Kollmann ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

scholarly journals Hereditary Fructose Intolerance

1990 ◽  
Vol 4 (12) ◽  
pp. 89
Author(s):  
J Gordon Millichap
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

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 Pitfalls in the Diagnosis of Hereditary Fructose Intolerance

PEDIATRICS ◽  
2020 ◽  
Vol 146 (2) ◽  
pp. e20193324
Author(s):  
Alexander Y. Kim ◽  
Joel J. Hughes ◽  
Angela Pipitone Dempsey ◽  
Krista Sondergaard Schatz ◽  
Tao Wang ◽  
...  
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

Aldolase activities in the liver in parents of patients with hereditary fructose intolerance

1967 ◽  
Vol 17 (2) ◽  
pp. 275-279 ◽  
Author(s):  
K. Raivio ◽  
J. Perheentupa ◽  
E.A. Nikkilä
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow‐up of hereditary fructose intolerance

2012 ◽  
Vol 413 (19-20) ◽  
pp. 1714-1715 ◽  
Author(s):  
Marina Moraitou ◽  
Evangelia Dimitriou ◽  
Irene Mavridou ◽  
Helen Michelakakis ◽  
Helen Georgouli ◽  
...  
Keyword(s):  
Isoelectric Focusing ◽  
Lysosomal Enzyme ◽  
Enzyme Activities ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance
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