[Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy]

MMW Fortschr Med. 2000 Jan 20;142(3 Suppl):171-2.
[Article in German]

Abstract

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.

MeSH terms

  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / drug therapy
  • Congenital Disorders of Glycosylation / genetics*
  • Genetic Carrier Screening
  • Humans
  • Mannose / administration & dosage
  • Mannose-6-Phosphate Isomerase / deficiency
  • Mannose-6-Phosphate Isomerase / genetics

Substances

  • Mannose-6-Phosphate Isomerase
  • Mannose