Problem
Carbohydrate-deficient glycoprotein syndrome
Other Names:
CDG syndromeCDGS
Nature:
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common sub-type is PMM2-CDG (formerly known as CDG-Ia) where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.
Broader Problems:
Hereditary metabolic diseases Aggravates:
Leukodystrophies Subject(s):
Fundamental Sciences → Organic chemical compoundsMedicine → Pathology
Medicine → Specific diseases
Societal Problems → Deprivation
Related UN Sustainable Development Goals:
Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST