General Information of Disease (ID: DIS390XQ)

Disease Name Intestinal disaccharidase deficiency
Synonyms intestinal disaccharide deficiency and disaccharide malabsorption; intestinal disaccharidase deficiency and disaccharide malabsorption
Definition
Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.
Disease Hierarchy
DISWRYYA: Carbohydrate metabolism disease
DISGMUVS: Malabsorption syndrome
DISWD40R: Disease
DIS390XQ: Intestinal disaccharidase deficiency
Disease Identifiers
MONDO ID
MONDO_0004905
UMLS CUI
C0021830
MedGen ID
5861