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Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption

MedGen UID:
5861
Concept ID:
C0021830
Disease or Syndrome

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  
  • CROGVIntestinal Disaccharidase Deficiency and Disaccharide Malabsorption

Professional guidelines

PubMed

Davidson GP, Robb TA
J Pediatr Gastroenterol Nutr 1985 Jun;4(3):381-7. doi: 10.1097/00005176-198506000-00010. PMID: 4020571

Recent clinical studies

Etiology

Kluch M, Socha-Banasiak A, Pacześ K, Borkowska M, Czkwianianc E
Pol Merkur Lekarski 2020 Aug 22;49(286):275-278. PMID: 32827425
Cohen SA, Oloyede H, Gold BD, Mohammed A, Elser HE
J Pediatr Gastroenterol Nutr 2018 Jun;66 Suppl 3:S56-S60. doi: 10.1097/MPG.0000000000001961. PMID: 29762380
Forget P, Lombet J, Grandfils C, Dandrifosse G, Geubelle F
J Pediatr Gastroenterol Nutr 1985 Dec;4(6):868-72. doi: 10.1097/00005176-198512000-00004. PMID: 3934358
Alpers DH, Isselbacher KJ
Adv Metab Disord 1970;4:75-122. doi: 10.1016/b978-0-12-027304-1.50009-0. PMID: 4922839
Bayless TM, Christopher NL
Am J Clin Nutr 1969 Feb;22(2):181-90. doi: 10.1093/ajcn/22.2.181. PMID: 4885929

Diagnosis

Dale HF, Hagen M, Deb C, Skar V, Valeur J
Scand J Clin Lab Invest 2024 Jul;84(4):268-272. Epub 2024 Jul 10 doi: 10.1080/00365513.2024.2377960. PMID: 38984772
Kluch M, Socha-Banasiak A, Pacześ K, Borkowska M, Czkwianianc E
Pol Merkur Lekarski 2020 Aug 22;49(286):275-278. PMID: 32827425
Forget P, Lombet J, Grandfils C, Dandrifosse G, Geubelle F
J Pediatr Gastroenterol Nutr 1985 Dec;4(6):868-72. doi: 10.1097/00005176-198512000-00004. PMID: 3934358
Lebenthal E
Pediatr Clin North Am 1975 Nov;22(4):757-66. doi: 10.1016/s0031-3955(16)33206-0. PMID: 1105360
Alpers DH, Isselbacher KJ
Adv Metab Disord 1970;4:75-122. doi: 10.1016/b978-0-12-027304-1.50009-0. PMID: 4922839

Therapy

Enattah N, Pekkarinen T, Välimäki MJ, Löyttyniemi E, Järvelä I
Eur J Clin Nutr 2005 Oct;59(10):1105-11. doi: 10.1038/sj.ejcn.1602219. PMID: 16015262
Arola H, Koivula T, Karvonen AL, Jokela H, Ahola T, Isokoski M
Scand J Gastroenterol 1999 Sep;34(9):898-903. doi: 10.1080/003655299750025372. PMID: 10522609
Reddy V, Pershad J
Am J Clin Nutr 1972 Jan;25(1):114-9. doi: 10.1093/ajcn/25.1.114. PMID: 5066618
Bayless TM
J Am Diet Assoc 1972 Jun;60(6):478-82. PMID: 4554577
De Ritis F, Balestrieri GG, Ruggiero G, Filosa E, Auricchio S
Enzymol Biol Clin (Basel) 1970;11(3):263-7. doi: 10.1159/000458363. PMID: 5467076

Prognosis

Lloyd-Still JD, Listernick R, Buentello G
J Pediatr 1988 May;112(5):709-13. doi: 10.1016/s0022-3476(88)80686-3. PMID: 3361380
Davidson GP, Robb TA
J Pediatr Gastroenterol Nutr 1985 Jun;4(3):381-7. doi: 10.1097/00005176-198506000-00010. PMID: 4020571
Berg NO, Dahlqvist A, Lindberg T
Acta Paediatr Scand 1979 Sep;68(5):751-8. doi: 10.1111/j.1651-2227.1979.tb18451.x. PMID: 525343

Clinical prediction guides

Dale HF, Hagen M, Deb C, Skar V, Valeur J
Scand J Clin Lab Invest 2024 Jul;84(4):268-272. Epub 2024 Jul 10 doi: 10.1080/00365513.2024.2377960. PMID: 38984772
Kozlov A, Vershubskaya G, Gorin I, Petrushenko V, Lavryashina M, Balanovska E
Int J Circumpolar Health 2023 Dec;82(1):2183931. doi: 10.1080/22423982.2023.2183931. PMID: 36880131Free PMC Article
Cohen SA, Oloyede H, Gold BD, Mohammed A, Elser HE
J Pediatr Gastroenterol Nutr 2018 Jun;66 Suppl 3:S56-S60. doi: 10.1097/MPG.0000000000001961. PMID: 29762380
Davidson GP, Robb TA
J Pediatr Gastroenterol Nutr 1985 Jun;4(3):381-7. doi: 10.1097/00005176-198506000-00010. PMID: 4020571
Perlow W, Baraona E, Lieber CS
Gastroenterology 1977 Apr;72(4 Pt 1):680-4. PMID: 838222

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