H00115 | |
H number | H00115 |
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 |
Network | - |
Gene | (CSID) SI [HSA:6476] [KO:K01203] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Sacrosidase [DR:D05782] |
Comment | - |
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 |