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.
HPLC (High Performance Liquid Chromatography) can detect certain genetic variants and potential liver diseases affecting CDT. Used with other tests, such as gamma glutamyl transferase (GGT), aspartate aminotransferase (AST), and alanine aminotransferase (ALT), carbohydrate-deficient transferrin can be a useful tool in identifying problem ...
The two organs most commonly affected are the liver and the skeletal muscle. Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia; those that affect skeletal muscle cause exercise intolerance, progressive weakness and cramping. [1] Glucose-6-phosphate isomerase deficiency affects step 2 of glycolysis.
Citrin deficiency has four primary phenotypes that are age dependent. These include neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) that affects infants, the adaptation or silent period, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adolescent and adult citrin deficiency (AACD) (formerly termed CTLN2), which represents the most severe form of ...
Isolated growth hormone deficiency, hypopituitarism; Insulin excess. Hyperinsulinism due to several congenital disorders of insulin secretion; Insulin injected for type 1 diabetes; Hyperinsulinism-hyperammonemia syndrome (HIHA) due to glutamate dehydrogenase 1 gene. Can cause intellectual disability and epilepsy in severe cases. [3]
Opt for nuts to balance out other high-carb ingredients, or better yet, instead of empty high-calorie snacks such as potato and corn chips. panco971/istockphoto. Flax Seeds.
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]