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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 ...
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.
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.
Generally, diseases outlined within the ICD-10 codes E73-E74 within Chapter IV: Endocrine, nutritional and metabolic diseases should be included in this category. Pages in category "Inborn errors of carbohydrate metabolism"
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]
Adults with mild type 2 diabetes might improve their insulin sensitivity by following a low-carb diet, thus potentially eliminating the need for medication, a new study suggests.
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Breakfast (435 calories) 1 cup low-fat plain strained Greek-style yogurt. 1 serving Cinnamon-Toasted Oats. ½ cup raspberries. 2 Tbsp. chopped walnuts. A.M. Snack (334 calories)