KEGG   DISEASE: Congenital sucrase-isomaltase deficiency
Entry
H00115                      Disease                                
Name
Congenital sucrase-isomaltase deficiency;
Disaccharide intolerance I
Description
Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C61  Disorders of carbohydrate absorption or transport
     H00115  Congenital sucrase-isomaltase deficiency
Pathway
hsa00500  Starch and sucrose metabolism
hsa04973  Carbohydrate digestion and absorption
hsa00052  Galactose metabolism
Gene
(CSID) SI [HSA:6476] [KO:K01203]
Drug
Sacrosidase [DR:D05782]
Other DBs
ICD-11: 5C61.2
ICD-10: E74.3
MeSH: C538139
OMIM: 222900
Reference
PMID:16329100
  Authors
Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY
  Title
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
  Journal
Hum Mutat 27:119 (2006)
DOI:10.1002/humu.9392
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