Phenotypic Observations by the CSID Dietary and Medical Support Group

Abstract

they may also offer relief for transient deficiencies such as may occur with small bowel injury.The strengths of these data lie in the large sample size that is nationally representative and the consistent and experienced personnel who performed the analyses; the enzyme assay has been in use and has not changed in decades. The weaknesses of these data lie in the lack of clinical correlation, the selection by the endoscopists of a young age group from which samples were obtained, the inability to control for sample integrity throughout the entire process of obtaining the samples, and handling and shipping. The analyses were performed manually, and human error is always a possibility. We conclude that the most common disaccharidase deficiency is lactase followed by pandisaccharidase. Sucrase deficiency was rare in these samples.

Improved Starch Digestion of Sucrase‐deficient Shrews Treated With Oral Glucoamylase Enzyme Supplements

“…As seen in Table 2, sucrase activity is deficient but the isomaltase activity (measured with palatinose substrate) is intact in the suc/suc shrews. This activity pattern of sucrase deficiency with normal palatinase occurs in duodenal biopsies of 34% of patients with CSID (33). Sucrose feeding intolerance, characterized by diarrhea and weight loss, was documented in suc/suc shrews, but maltodextrin feeding was well tolerated by these animals (Table 1).…”

Diet management in congenital diarrheas and enteropathies – general concepts and disease-specific approach, a narrative review

“…The severity of symptoms is influenced by enzymatic capacity and the dietary load of sucrose and starch [ 15 , 17 ]. Five clinical phenotypes have been described in CSID—A, B, C, D, and F [ 18 ]—with differences based on the degree of enzymatic activity, tolerance of starch and maltodextrin, and resolution of symptoms.…”