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Figures
- Figure 1:
Sucrase–isomaltase catalyzes the hydrolysis of the α-1,2 glycosidic bond in sucrose (A), α-1,4 glycosidic bond in maltose (B) and α-1,6 glycosidic bond in isomaltose (C), as well as α-1,4 and α-1,6 limit dextrins generated from dietary starch by α-amylase (not depicted). Blue circles depict sites of hydrolysis.
- Figure 2:
Abdominal radiographs taken at 3 months of age showing severe bowel distension with multiple air-fluid levels in the small bowel. Severity of symptoms was such that the patient received a rectal biopsy for suspected Hirschsprung disease.
- Figure 3:
Sucrase–isomaltase is located at the brush-border membrane of the small intestine. Enzymatic domains are in the gut lumen, connected to the cellular membrane by a short linker sequence. The c.273_274delAG mutation (red circle) results in disruption of the usual reading frame (p.Gly92Leufs*8), completely abolishing both enzymatic activities (depicted in grey). Owing to nonsense-mediated decay, there is a high likelihood that the resulting messenger RNA product is targeted for degradation (i.e., is not translated and is functionally null).
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