Abstract
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.
Highlights
Hereditary fructose intolerance (HFI; OMIM 229600) is an autosomal recessive inborn error of metabolism [1]
The Hereditary Fructose Intolerance (HFI) patients were 22 females and 15 males; 23 patients were below 18 years of age, and 14 were adults
Previous studies have shown that untreated HFI patientssialoTf have an abnormal patients under a FSS-restrictive diet was examined, compared to that of cosylation pattern [21,22,23,24,25]
Summary
Hereditary fructose intolerance (HFI; OMIM 229600) is an autosomal recessive inborn error of metabolism [1]. HFI was first reported in 1956 by Chambers and Pratt [2]. It is characterized by deficiency of the enzyme fructose-1,6-bisphosphate aldolase Aldolase B catalyses different reactions including cleavage of fructose-1-phosphate (F1P). Reversible cleavage of fructose-1,6-bisphosphate (FBP) into glyceraldehyde phosphate and dihydroxyacetone phosphate (DHAP) [1]. This enzyme plays a key role in the control of fructose and glucose metabolism, regulating both glycolysis and gluconeogenesis. HFI is caused by homozygous or compound heterozygous mutations in the aldolase B gene (ALDOB; 612724) on chromosome 9q31 [4]. Based on the carrier frequency of the most common mutations in neonates, it has been estimated that the prevalence of HFI is around
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