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. 2022 Jun;71(6):1237-1238.
doi: 10.1136/gutjnl-2021-326153. Epub 2021 Oct 6.

Adult sucrase-isomaltase deficiency masquerading as IBS

Anna Foley  1 , Emma Phoebe Halmos  1 , Diab M Husein  2 , Sasha Rachel Fehily  1 , Britt-Sabina Löscher  3 , Andre Franke  3 , Hassan Y Naim  2 , Peter R Gibson  4 , Mauro D'Amato  5   6   7
Affiliations

Adult sucrase-isomaltase deficiency masquerading as IBS

Anna Foley et al. Gut. 2022 Jun.
No abstract available

Keywords: carbohydrates; genetics; irritable bowel syndrome; malabsorption.

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Conflict of interest statement

Competing interests: MD'A and HN have received financial support from QOL Medical, in the form of unrestricted research grants; PRG, EPH: Monash University financially benefits from the sales of a digital application, booklets and online courses on the FODMAP diet; PRG has published two educational/recipe books on diet; other authors have nothing to declare.

Figures

Figure 1
Figure 1
Patient’s SI genetic profiling and in vitro characterisation of the enzymatic activity of corresponding DNA variants. (A) The patient’s DNA was sequenced via clinical exome sequencing (Illumina) service at the Australian Genomic Research Facility (www.agrf.org.au), and confirmed via ad hoc resequencing of the SI gene (Illumina targeted assay) at IKMB in Kiel Germany; (B/C) COS-1 cells were transfected or cotransfected with cDNAs encoding SI variants of interest (wt, [H1684Q, G1760V] and [V15F]), and cell surface expression (B) and sucrase activity (C) determined relative to wt (set as reference 100%), upon immunoprecipitation and quantification/normalisation with appropriate antibodies as previously described. *Student t-test p<0.05. SI, sucrase-isomaltase.
Figure 2
Figure 2
Characterisationof SI deficiency in the studied patient. (A) Enzymatic activity ex vivo in duodenal biopsies; (B) Sucrose breath hydrogen testing with and without sucrosidase; (C) Therapeutic trials with sucrose-reducing and starch-reducing diet, and sucrosidase. SI, sucrase-isomaltase.
See this image and copyright information in PMC

References

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