Clinical Aspects and Treatment of Congenital Sucrase‐Isomaltase Deficiency

Treem, William R.

doi:10.1097/01.mpg.0000421401.57633.90

Cited by 74 publications

(106 citation statements)

References 48 publications

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“…As CSID is a rare disorder, diagnosis is often delayed while more common causes of diarrhoea are investigated or because of initial misdiagnosis as a functional disorder 1 2. The standard method for confirming diagnosis (duodenal or jejunal mucosal biopsy and assay of disaccharidases) is invasive and associated with several drawbacks, including false-negative results and a complex freeze/thaw process that can adversely affect findings.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with this rare disorder have an inability to metabolise specific carbohydrates, including sucrose, maltose and starch,2 and ingestion of these substrates causes a variety of symptoms including diarrhoea, abdominal pain and bloating 2. Severity of symptoms is influenced by residual enzymatic activity, levels of carbohydrate intake, gut motility and colonic fermentation.…”

Section: Introductionmentioning

confidence: 99%

“…CSID is usually diagnosed in infancy, although some individuals with milder symptoms are not diagnosed until adulthood,2 and many patients are probably misdiagnosed as having a functional disorder. Duodenal or jejunal mucosal biopsy and assay of disaccharidases is the gold standard technique for diagnosis 2.…”

Section: Introductionmentioning

confidence: 99%

“…Duodenal or jejunal mucosal biopsy and assay of disaccharidases is the gold standard technique for diagnosis 2. Sucrase activity ranges from reduced to absent, and isomaltase or maltase activity is similarly variable.…”

Section: Introductionmentioning

confidence: 99%

“…Several studies have demonstrated the efficacy of the yeast-derived enzyme sacrosidase for relieving symptoms 1 2. We describe clinical presentation, diagnosis and response to treatment with Sucraid (sacrosidase) in six children with CSID.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Congenital sucrase–isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy

Puntis

Zamvar

2015

Arch Dis Child

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Congenital sucrase-isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. Typical presenting symptoms were watery diarrhoea, abdominal pain and bloating, sometimes noticeably worse after ingestion of fruit. Diagnosis is challenging since conventional hydrogen breath testing after an oral sucrose load is impractical in young children, and many laboratories no longer look for maldigested sucrose using faecal sugar chromatography. Confirmation is by disaccharidase assay of duodenal or jejunal mucosa obtained endoscopically. All six patients showed little improvement following advice regarding dietary management, but experienced a marked reduction in symptoms with sacrosidase administration; no adverse events were reported. Sacrosidase is an effective and well-tolerated treatment for patients with congenital SI deficiency. Gene testing and clinical trial of sacrosidase may become an alternative to endoscopic biopsies for diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%