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Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Cano, A
  • Alcalde, C
  • Belanger-Quintana, A
  • Canedo-Villarroya, E
  • Ceberio, L
  • Chumillas-Calzada, S
  • Couce, ML
  • Garcia-Arenas, D
  • Gomez, I
  • Hernandez, T
  • Izquierdo-Garcia, E
  • Chicano, DM
  • Morales, M
  • Pedron-Giner, C
  • Jauregui, EP
  • Pena-Quintana, L
  • Sanchez-Pintos, P
  • Serrano-Nieto, J
  • Suarez, MU
  • de las Heras, J

Grupos

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.

Datos de la publicación

ISSN/ISSNe:
2077-0383, 2077-0383

Journal of Clinical Medicine  MDPI

Tipo:
Article
Páginas:
-
PubMed:
34208868
Factor de Impacto:
1,040 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 6

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Keywords

  • hereditary fructose intolerance; fructose; sucrose; sorbitol; diet; sialotransferrin profile; biomarker; aldolase B

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