Symbol
| CSID
|
Location
| 3q26.1
|
Name
|
sucrase-isomaltase deficiency |
Other name(s)
|
sucrase-isomaltase deficiency, congenital
sucrose-isomaltase malabsorption, congenital
disaccharide intolerance, sucrose intolerance |
Corresponding gene
|
SI
|
Main clinical features
|
osmotic diarrhea when the disaccharide is ingested, onset of symptoms ranged from 2 to 16 weeks, delayed diagnosis led to severe malnutrition in these infants |
Genetic determination
| autosomal recessive |
Function/system disorder
| digestive tract/gastrointestinal |
Type
| disease
|