Gene: [03q2/SI] glucosidase, oligo-1,6- (isomaltase: EC:3.2.1.10); glucosidase, sucrose alpha- (sucrase: EC:3.2.1.48); disaccharide intolerance I (sucrase deficiency I);
|
PAT |
Homozygotes suffer of the severe enzyme deficiency for the whole life. Heterozygotes have an intermediate level of the enzymes." |
|
POP |
The prevalence of the type I defect varies considerably: e.g., it amounts about 0.2% in North America populations and up to 10% among Eskimoes of Greenland." |
|
HET |
The MIM catalogue describes three independent forms of deficiency of enzymes splitting disaccharides. In addition to this form, there are type II (MIM:223000, CLD - congenital lactase deficiency) and type III (MIM:223100, ALD - adult lactase deficiency, see GEM:02q21/LCT) deficiencies." |
|
REF |
FUN,FOG,PAT "Dahlqvist A: Am J Clin Nutr, 20, 81-88, 1967 CLO,COD,LOC "Davis &: CCG, 46, (HGM9), 604, 1987 CLO,COD,SEQ,EXP,LOC "Green F &: Gene, 57, 101-110, 1987 TER "Greene &: Biochem Med, 6, 409-418, 1972 TER "Harms &: New Engl J Med, 316, 1306-1309, 1987 FUN,FOG,PAT "Hauri &: PNAS, 82, 4423-4427, 1985 FUN,FOG,PAT "Hauser, Semenza: CRC Crit Rev Biochem, 14, 319-345, 1983 FUN,FOG,PAT "Jansen &: Arch Int Med, 116, 879-885, 1965 FUN,FOG,PAT "Kerry, Townley: Austr Paediat J, 1, 223-235, 1965 FUN,FOG,PAT "Ringrose &: Digest Dis Sci, 25, 384-387, 1980 LOC "West &: Ann Hum Genet, 52, 57-61, 1988 |
|
KEY |
git, carb, mtbd |
|
CLA |
coding, basic |
|
LOC |
03 q25.2-26.2 |
|
MIM |
MIM: 222900 |
|
EZN |
ENZYME: 3.2.1.10 |
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