[Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy].
Underlying the carbohydrate-deficient glycoprotein syndrome (CDGS) type 1b is a defect in phosphomannose isomerase (PMI), an enzyme of mannose metabolism. The clinical manifestations include exudative gastroenteropathy, thromboses and hemorrhages. In contrast to other forms of the CDGS syndrome, neurological symptoms are completely lacking. The condition responds to a simple dietetic treatment employing the monosaccharide mannose.
Niehues
R
R
Kinderklinik, Universität Münster.
Hasilik
M
M
D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D008358:Mannose / Q000008:administration & dosage; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency / Q000235:genetics
D008359:Mannose-6-Phosphate Isomerase; D008358:Mannose