Relationships among Dietary Intakes and Persistent Gastrointestinal Symptoms in Patients Receiving Enzyme Treatment for Genetic Sucrase-Isomaltase Deficiency.

BACKGROUND: Sucrose-isomaltase deficiency (SID) remains underdiagnosed. Absent or reduced enzyme activity promotes diarrhea, abdominal bloating, and flatulence from undigested and malabsorbed disaccharides. Frequency and severity of gastrointestinal symptoms may be associated with the type of carbohydrates consumed. OBJECTIVE: To characterize the dietary intakes of patients treated with sacrosidase (Sucraid; QOL Medical) for SID and determine relationships between type of carbohydrates, sacrosidase dose, and gastrointestinal symptoms. DESIGN: A prospective 30-day observational study. PARTICIPANTS/SETTING: Forty-nine patients treated with sacrosidase for ≥3 months were recruited from the enzyme manufacturer's nationwide clinical database between November 2014 and August 2015. MAIN OUTCOME MEASURES: Dietary energy and nutrient intakes reported during 24-hour diet recall interviews, frequency and severity of gastrointestinal (GI) symptoms, and sacrosidase dose. STATISTICAL ANALYSES PERFORMED: Relationships between nutrient intakes, sacrosidase dose, and GI symptoms were evaluated using Spearman ρ correlation coefficients. RESULTS: Sacrosidase dose averaged 5.2±3.1 mL/day. Participants reported 1.3±0.9 bowel movements daily. Having less frequent GI symptoms was associated with higher sacrosidase intake. Energy intakes averaged 1,562.5±411.5 kcal/day in children, 1,964.7±823.6 kcal/day in adolescents, and 1,952.6±546.5 kcal/day in adults. Macronutrient composition averaged 44% carbohydrate, 39% fat, and 17% protein. Average carbohydrate composition was 35% starch, 8% fiber, and 59% sugars. Sucrose and fructose intakes were not associated with GI symptoms. Lactose intake was associated with diarrhea. Maltose intake was associated with nausea, distension, and reflux. CONCLUSIONS: Intakes were lower in carbohydrates and higher in fat compared with the Acceptable Macronutrient Distribution Ranges. Sucrose and fructose intakes were not associated with GI symptoms. Higher maltose and lactose intakes were associated with GI symptom frequency and severity. These findings provide evidence to guide nutrition counseling for patients treated for SID.

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

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.

13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients.

BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is characterized by absence or deficiency of the mucosal sucrase-isomaltase enzyme. Specific diagnosis requires upper gastrointestinal biopsy with evidence of low to absent sucrase enzyme activity and normal histology. The hydrogen breath test (BT) is useful, but is not specific for confirmation of CSID. We investigated a more specific 13C-sucrose labeled BT. OBJECTIVES: Determine whether CSID can be detected with the 13C-sucrose BT without duodenal biopsy sucrase assay, and if the 13C-sucrose BT can document restoration of sucrose digestion by CSID patients after oral supplementation with sacrosidase (Sucraid). METHODS: Ten CSID patients were diagnosed by low biopsy sucrase activity. Ten controls were children who underwent endoscopy and biopsy because of dyspepsia or chronic diarrhea with normal mucosal enzymes activity and histology. Uniformly labeled 13C-glucose and 13C-sucrose loads were orally administered. 13CO2 breath enrichments were assayed using an infrared spectrophotometer. In CSID patients, the 13C-sucrose load was repeated adding Sucraid. Sucrose digestion and oxidation were calculated as a mean percent coefficient of glucose oxidation averaged between 30 and 90 minutes. RESULTS: Classification of patients by 13C-sucrose BT percent coefficient of glucose oxidation agreed with biopsy sucrase activity. The breath test also documented the return to normal of sucrose digestion and oxidation after supplementation of CSID patients with Sucraid. CONCLUSIONS: 13C-sucrose BT is an accurate and specific noninvasive confirmatory test for CSID and for enzyme replacement management.