Disease Information for Disaccharidase deficiency

Clinical Manifestations
Signs & Symptoms
Buttock area rash
Abdominal bloating
Abdominal Distension
Abdominal distension/protrusion/sign
Abdominal Distention
Abdominal fullness feeling
Abdominal Pain
Abdominal Pain in Adolescent
Abdominal pain/Improves fasting
Active Bowel Sounds
Acute Diarrhea
Acute Diarrhea in Children
Anorexia in Children
Bloating and Gas
Bloating and 'gas'/Flatulence
Borborygmi/Bowel sound increased
Chronic Abdominal Pain
Chronic Diarrhea in a Child
Diarrhea in Children
Diarrhea, chronic
Diarrhea, explosive
Diarrhea, recurrent
Hypereactive Bowel Sounds
Large bowel symptoms/signs
Milk intolerance
Postprandial bowel movement/urge
Protruberant Abdomen
Recurrent Abdominal Pain
Specific food/intolerance
Apparently well Silent disorder possible
Children sicker than adults
Sucrose intolerance/complaint
Weight Loss
Clinical Presentation & Variations
Presentation/Healthy child Frequent stools No wgt loss
Disease Progression
Course/Chronic disorder
Course/Chronic only
Improves with puberty/adulthood
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Laboratory Tests
Abnormal Lab Findings (Non Measured)
STOOL acid/PH low
Abnormal Lab Findings - Increased
STOOL Reducing substances
Diagnostic Test Results
BX/Jejunum/Disaccharidase assay abnormal
X-RAY With contrast
SBS/Short/rapid transit time/Barium
Associated Diseases & Rule outs
Rule Outs
Lactose intolerance syndrome
Whipple's disease
Associated Disease & Complications
Diaper rash
Lactose intolerance syndrome
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Peristalsis increased
Pathophysiology/Rapid transit time/gut
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Intestinal disaccharidase deficiencies and disaccharide malabsorption, Intestinal Disaccharidase Deficiency and Disaccharidase Malabsorption, Synonym/Congenital Sucrose Intolerance, Synonym/Congenital Sucrose Isomaltose Malabsorption, Synonym/CSID, Synonym/SI deficiency, Synonym/SI deficiency (CSID), Synonym/Sucrose isomaltose malabsorption, Synonym/Sucrose-Isomaltose malabsorption-congenital
Other Treatments
TX/Lactose free Diet
TX/Specific diet/avoidance

Congenital Disaccharide intolerance I; Synonyms: Disaccharide Intolerance I; CSID ; Congenital Sucrose Isomaltose Malabsorption ; SI Deficiency; Sucrase-Isomaltase Deficiency, Congenital ; Sucrose Intolerance,

Congenital Disaccharide intolerance I is a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase; This enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugars (i;e;, sucrose) and certain products of starch digestion (dextrins); The sucrase-isomaltase enzyme complex is normally found within the tiny, finger-like projections (microvilli or brush border) lining the small intestine; When this enzyme complex is deficient, nutrients based on ingested sucrose and starch cannot be absorbed properly from the gut; Symptoms of this disorder become evident soon after sucrose or starches, as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant; Breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet; Symptoms are variable among affected individuals but usually include watery diarrhea, abdominal swelling (distension) and/or discomfort, among others; Intolerance to starch often disappears within the first few years of life and the symptoms of sucrose intolerance usually improve as the affected child ages; Disaccharide intolerance I is inherited as an autosomal recessive genetic trait;

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Gene map locus 3q25-q26


External Links Related to Disaccharidase deficiency
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)