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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]
NGLY1 deficiency can be suspected based on clinical findings, however confirmation of the diagnosis requires the identification of biallelic pathogenic variants in NGLY1 through genetic testing. Traditional screening tests utilized for congenital disorders of glycosylation , including carbohydrate deficient transferrin are not diagnostic in ...
HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small intestine. Infants and adults are asymptomatic unless they ingest fructose or sucrose. [citation needed] Deficiency of hepatic fructose 1,6-biphosphate (FBPase) causes impaired gluconeogenesis, hypoglycemia and severe metabolic acidemia.
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 ...
Amazon is suing a Washington state agency to prevent the release of some company materials to The Washington Post, the newspaper which is owned by Amazon founder Jeff Bezos. In a lawsuit filed ...
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]