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Intestinal disaccharidase deficiency

MedGen UID:
5861
Concept ID:
C0021830
Disease or Syndrome
Synonyms: intestinal disaccharidase deficiency; Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption; intestinal disaccharidase deficiency and disaccharide malabsorption; intestinal disaccharide deficiency and disaccharide malabsorption
 
Monarch Initiative: MONDO:0004905

Definition

A classification of 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. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Viswanathan L, Rao SS
Curr Gastroenterol Rep 2023 Jun;25(6):134-139. Epub 2023 May 18 doi: 10.1007/s11894-023-00870-z. PMID: 37199899Free PMC Article

Recent clinical studies

Etiology

Perlow W, Baraona E, Lieber CS
Gastroenterology 1977 Apr;72(4 Pt 1):680-4. PMID: 838222

Diagnosis

Viswanathan L, Rao SS
Curr Gastroenterol Rep 2023 Jun;25(6):134-139. Epub 2023 May 18 doi: 10.1007/s11894-023-00870-z. PMID: 37199899Free PMC Article
Taylor C, Hodgson K, Sharpstone D, Sigthorsson G, Coutts M, Sherwood R, Menzies I, Gazzard B, Bjarnason I
Scand J Gastroenterol 2000 Jun;35(6):599-606. doi: 10.1080/003655200750023552. PMID: 10912659
Thompson RM, Coffin RD, Glick MR, Fitzgerald JF
Clin Chim Acta 1978 Mar 1;84(1-2):185-97. doi: 10.1016/0009-8981(78)90493-x. PMID: 639303

Therapy

Taylor C, Hodgson K, Sharpstone D, Sigthorsson G, Coutts M, Sherwood R, Menzies I, Gazzard B, Bjarnason I
Scand J Gastroenterol 2000 Jun;35(6):599-606. doi: 10.1080/003655200750023552. PMID: 10912659

Clinical prediction guides

Perlow W, Baraona E, Lieber CS
Gastroenterology 1977 Apr;72(4 Pt 1):680-4. PMID: 838222

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