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

Ссылки: