Ad
related to: what is carbohydrate deficient transferrin glycosylation blood- What You Need to Know
Learn the Risk Factors of T1D.
Take the Type 1 Risk Quiz
- T1D Risk Factors
Take the Type 1 Risk Quiz to
Understand Your Risk for T1D
- Screen Early for T1D
Learn the Importance of
Screening Early
- Doctor Discussion Guide
Download the Doctor Discussion
Guide for More on Screening & T1D.
- What You Need to Know
Search results
Results From The WOW.Com Content Network
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.
Carbohydrate-deficient transferrin is elevated in the blood of people with heavy alcohol consumption but elevated levels can also be found in a number of medical conditions. The limitations of the assay depend upon the methodology of the test.
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Carbohydrate deficient transferrin increases in the blood with heavy ethanol consumption and can be monitored through laboratory testing. [ 28 ] Transferrin is an acute phase protein and is seen to decrease in inflammation, cancers, and certain diseases (in contrast to other acute phase proteins, e.g., C-reactive protein, which increase in case ...
Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. [1] It is associated with SLC35C1. [2]
Glucose-6-phosphate dehydrogenase deficiency affects the degradation of glucose in the pentose phosphate pathway, which is especially important in red blood cells. [citation needed] For further information on inborn errors of glucose metabolism and inborn errors of glycogen metabolism see below. [citation needed]
Phosphoglucomutase 1 deficiency is both a glycogenosis and a congenital disorder of glycosylation. [39] Individuals with the disease have both a glycolytic block as muscle glycogen cannot be broken down, as well as abnormal serum transferrin (loss of complete N-glycans). [39]
Atransferrinemia is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood. [2] [4] Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure.